Canonical Allele Identifier: CA2650500256

Gene: USH2A

Linked Data

• gnomAD v4: 1-215671073-CTATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671075_215671078del , CM000663.2:g.215671075_215671078del	GRCh38
NC_000001.10:g.215844417_215844420del , CM000663.1:g.215844417_215844420del	GRCh37
NC_000001.9:g.213911040_213911043del	NCBI36
NG_009497.1:g.757320_757323del
NG_009497.2:g.757372_757375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14028_14031del MANE Select	ENSP00000305941.3:p.Ile4677GlnfsTer11
ENST00000674083.1:c.14028_14031del	ENSP00000501296.1:p.Ile4677GlnfsTer11
ENST00000307340.7:c.14028_14031del	ENSP00000305941.3:p.Ile4677GlnfsTer11
NM_206933.2:c.14028_14031del	NP_996816.2:p.Ile4677GlnfsTer11
NM_206933.3:c.14028_14031del	NP_996816.2:p.Ile4677GlnfsTer11
NM_206933.4:c.14028_14031del MANE Select	NP_996816.3:p.Ile4677GlnfsTer11