Canonical Allele Identifier: CA2747716477

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640812_215640813insATA , CM000663.2:g.215640812_215640813insATA	GRCh38
NC_000001.10:g.215814154_215814155insATA , CM000663.1:g.215814154_215814155insATA	GRCh37
NC_000001.9:g.213880777_213880778insATA	NCBI36
NG_009497.1:g.787585_787586insATT
NG_009497.2:g.787637_787638insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-78_14792-77insATT MANE Select	ENSP00000305941.3:n.14792-78_14792-77insATT
ENST00000674083.1:c.14792-78_14792-77insATT	ENSP00000501296.1:n.14792-78_14792-77insATT
ENST00000307340.7:c.14792-78_14792-77insATT	ENSP00000305941.3:n.14792-78_14792-77insATT
NM_206933.2:c.14792-78_14792-77insATT	NP_996816.2:n.14792-78_14792-77insATT
NM_206933.3:c.14792-78_14792-77insATT	NP_996816.2:n.14792-78_14792-77insATT
NM_206933.4:c.14792-78_14792-77insATT MANE Select	NP_996816.3:n.14792-78_14792-77insATT