Canonical Allele Identifier: CA2747716514

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640839_215640840insAAAAA , CM000663.2:g.215640839_215640840insAAAAA	GRCh38
NC_000001.10:g.215814181_215814182insAAAAA , CM000663.1:g.215814181_215814182insAAAAA	GRCh37
NC_000001.9:g.213880804_213880805insAAAAA	NCBI36
NG_009497.1:g.787557_787558insTTTTT
NG_009497.2:g.787609_787610insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-106_14792-105insTTTTT MANE Select	ENSP00000305941.3:n.14792-106_14792-105insTTTTT
ENST00000674083.1:c.14792-106_14792-105insTTTTT	ENSP00000501296.1:n.14792-106_14792-105insTTTTT
ENST00000307340.7:c.14792-106_14792-105insTTTTT	ENSP00000305941.3:n.14792-106_14792-105insTTTTT
NM_206933.2:c.14792-106_14792-105insTTTTT	NP_996816.2:n.14792-106_14792-105insTTTTT
NM_206933.3:c.14792-106_14792-105insTTTTT	NP_996816.2:n.14792-106_14792-105insTTTTT
NM_206933.4:c.14792-106_14792-105insTTTTT MANE Select	NP_996816.3:n.14792-106_14792-105insTTTTT