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Details for HNRNPA1:c.885_890del, p.Gly296_Gly297del

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
54676986	54283202

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

ACGGAGG

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.885_890del

PROTEIN CHANGE

p.Gly296_Gly297del

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.0129	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0009347	0.01253	0.001044	0.0	0.0	0.0	2.733e-05	0.0003388	0.0

ESP
AA	EA
0.0101	0.0001259

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.955891	Polymorphism

DBSNP ID

1 combination linked to HNRNPA1:c.885_890del, p.Gly296_Gly297del

1 disease linked to HNRNPA1:c.885_890del, p.Gly296_Gly297del

Amyotrophic lateral sclerosis

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