Canonical Allele Identifier: CA2747716427

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640785_215640786insAC , CM000663.2:g.215640785_215640786insAC	GRCh38
NC_000001.10:g.215814127_215814128insAC , CM000663.1:g.215814127_215814128insAC	GRCh37
NC_000001.9:g.213880750_213880751insAC	NCBI36
NG_009497.1:g.787611_787612insGT
NG_009497.2:g.787663_787664insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-52_14792-51insGT MANE Select	ENSP00000305941.3:n.14792-52_14792-51insGT
ENST00000674083.1:c.14792-52_14792-51insGT	ENSP00000501296.1:n.14792-52_14792-51insGT
ENST00000307340.7:c.14792-52_14792-51insGT	ENSP00000305941.3:n.14792-52_14792-51insGT
NM_206933.2:c.14792-52_14792-51insGT	NP_996816.2:n.14792-52_14792-51insGT
NM_206933.3:c.14792-52_14792-51insGT	NP_996816.2:n.14792-52_14792-51insGT
NM_206933.4:c.14792-52_14792-51insGT MANE Select	NP_996816.3:n.14792-52_14792-51insGT