Canonical Allele Identifier: CA2747716397

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640770_215640771insAGTT , CM000663.2:g.215640770_215640771insAGTT	GRCh38
NC_000001.10:g.215814112_215814113insAGTT , CM000663.1:g.215814112_215814113insAGTT	GRCh37
NC_000001.9:g.213880735_213880736insAGTT	NCBI36
NG_009497.1:g.787626_787627insAACT
NG_009497.2:g.787678_787679insAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-37_14792-36insAACT MANE Select	ENSP00000305941.3:n.14792-37_14792-36insAACT
ENST00000674083.1:c.14792-37_14792-36insAACT	ENSP00000501296.1:n.14792-37_14792-36insAACT
ENST00000307340.7:c.14792-37_14792-36insAACT	ENSP00000305941.3:n.14792-37_14792-36insAACT
NM_206933.2:c.14792-37_14792-36insAACT	NP_996816.2:n.14792-37_14792-36insAACT
NM_206933.3:c.14792-37_14792-36insAACT	NP_996816.2:n.14792-37_14792-36insAACT
NM_206933.4:c.14792-37_14792-36insAACT MANE Select	NP_996816.3:n.14792-37_14792-36insAACT