Canonical Allele Identifier: CA2747716378

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640754_215640755insACA , CM000663.2:g.215640754_215640755insACA	GRCh38
NC_000001.10:g.215814096_215814097insACA , CM000663.1:g.215814096_215814097insACA	GRCh37
NC_000001.9:g.213880719_213880720insACA	NCBI36
NG_009497.1:g.787642_787643insTGT
NG_009497.2:g.787694_787695insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-21_14792-20insTGT MANE Select	ENSP00000305941.3:n.14792-21_14792-20insTGT
ENST00000674083.1:c.14792-21_14792-20insTGT	ENSP00000501296.1:n.14792-21_14792-20insTGT
ENST00000307340.7:c.14792-21_14792-20insTGT	ENSP00000305941.3:n.14792-21_14792-20insTGT
NM_206933.2:c.14792-21_14792-20insTGT	NP_996816.2:n.14792-21_14792-20insTGT
NM_206933.3:c.14792-21_14792-20insTGT	NP_996816.2:n.14792-21_14792-20insTGT
NM_206933.4:c.14792-21_14792-20insTGT MANE Select	NP_996816.3:n.14792-21_14792-20insTGT