Canonical Allele Identifier: CA2747716471

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640801_215640802insCTT , CM000663.2:g.215640801_215640802insCTT	GRCh38
NC_000001.10:g.215814143_215814144insCTT , CM000663.1:g.215814143_215814144insCTT	GRCh37
NC_000001.9:g.213880766_213880767insCTT	NCBI36
NG_009497.1:g.787595_787596insAAG
NG_009497.2:g.787647_787648insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-68_14792-67insAAG MANE Select	ENSP00000305941.3:n.14792-68_14792-67insAAG
ENST00000674083.1:c.14792-68_14792-67insAAG	ENSP00000501296.1:n.14792-68_14792-67insAAG
ENST00000307340.7:c.14792-68_14792-67insAAG	ENSP00000305941.3:n.14792-68_14792-67insAAG
NM_206933.2:c.14792-68_14792-67insAAG	NP_996816.2:n.14792-68_14792-67insAAG
NM_206933.3:c.14792-68_14792-67insAAG	NP_996816.2:n.14792-68_14792-67insAAG
NM_206933.4:c.14792-68_14792-67insAAG MANE Select	NP_996816.3:n.14792-68_14792-67insAAG