Allele Registry

Canonical Allele Identifier: CA252489

Gene: USH1G HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.74920442dupC

GRCh38 chr17:g.74920441_74920442insC

GRCh37 chr17:g.72916537dupC

GRCh37 chr17:g.72916536_72916537insC

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000003051

RCV000222936

ClinVar Variation:

2917

dbSNP:

587776546

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920443dup , CM000679.2:g.74920443dup	GRCh38
NC_000017.10:g.72916538dup , CM000679.1:g.72916538dup	GRCh37
NC_000017.9:g.70428133dup	NCBI36
NG_007882.1:g.7815dup
NG_033062.1:g.1169dup
NG_007882.2:g.7822dup
NG_033062.2:g.1169dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.394dup MANE Select	ENSP00000480279.1:p.Val132GlyfsTer3
ENST00000579243.1:c.341dup	ENSP00000462568.1:p.Gly115TrpfsTer4
ENST00000614341.4:c.394dup	ENSP00000480279.1:p.Val132GlyfsTer3
NM_001282489.2:c.85dup	NP_001269418.1:p.Val29GlyfsTer3
NM_173477.4:c.394dup	NP_775748.2:p.Val132GlyfsTer3
XM_011524296.1:c.85dup	XP_011522598.1:p.Val29GlyfsTer3
XM_011524296.2:c.85dup	XP_011522598.1:p.Val29GlyfsTer3
NM_173477.5:c.394dup MANE Select	NP_775748.2:p.Val132GlyfsTer3
NM_001282489.3:c.85dup	NP_001269418.1:p.Val29GlyfsTer3

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