Canonical Allele Identifier: CA2747716529

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640858_215640859insGA , CM000663.2:g.215640858_215640859insGA	GRCh38
NC_000001.10:g.215814200_215814201insGA , CM000663.1:g.215814200_215814201insGA	GRCh37
NC_000001.9:g.213880823_213880824insGA	NCBI36
NG_009497.1:g.787539_787540insCT
NG_009497.2:g.787591_787592insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-124_14792-123insCT MANE Select	ENSP00000305941.3:n.14792-124_14792-123insCT
ENST00000674083.1:c.14792-124_14792-123insCT	ENSP00000501296.1:n.14792-124_14792-123insCT
ENST00000307340.7:c.14792-124_14792-123insCT	ENSP00000305941.3:n.14792-124_14792-123insCT
NM_206933.2:c.14792-124_14792-123insCT	NP_996816.2:n.14792-124_14792-123insCT
NM_206933.3:c.14792-124_14792-123insCT	NP_996816.2:n.14792-124_14792-123insCT
NM_206933.4:c.14792-124_14792-123insCT MANE Select	NP_996816.3:n.14792-124_14792-123insCT