Allele Registry

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ClinGen Allele Registry

Canonical Allele Identifier: CA658821850

Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 553681

ClinVar RCV Id: RCV000669187

dbSNP Id: rs1553256576

MyVariant Identifiers: chr1:g.215728281dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215728281dup , CM000663.2:g.215728281dup	GRCh38
NC_000001.10:g.215901623dup , CM000663.1:g.215901623dup	GRCh37
NC_000001.9:g.213968246dup	NCBI36
NG_009497.1:g.700116dup
NG_009497.2:g.700168dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11815dup MANE Select	ENSP00000305941.3:p.Glu3939GlyfsTer8
ENST00000674083.1:c.11815dup	ENSP00000501296.1:p.Glu3939GlyfsTer8
ENST00000307340.7:c.11815dup	ENSP00000305941.3:p.Glu3939GlyfsTer8
NM_206933.2:c.11815dup	NP_996816.2:p.Glu3939GlyfsTer8
NM_206933.3:c.11815dup	NP_996816.2:p.Glu3939GlyfsTer8
NM_206933.4:c.11815dup MANE Select	NP_996816.3:p.Glu3939GlyfsTer8