Canonical Allele Identifier: CA2747716458

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640798_215640799insA , CM000663.2:g.215640798_215640799insA	GRCh38
NC_000001.10:g.215814140_215814141insA , CM000663.1:g.215814140_215814141insA	GRCh37
NC_000001.9:g.213880763_213880764insA	NCBI36
NG_009497.1:g.787598_787599insT
NG_009497.2:g.787650_787651insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-65_14792-64insT MANE Select	ENSP00000305941.3:n.14792-65_14792-64insT
ENST00000674083.1:c.14792-65_14792-64insT	ENSP00000501296.1:n.14792-65_14792-64insT
ENST00000307340.7:c.14792-65_14792-64insT	ENSP00000305941.3:n.14792-65_14792-64insT
NM_206933.2:c.14792-65_14792-64insT	NP_996816.2:n.14792-65_14792-64insT
NM_206933.3:c.14792-65_14792-64insT	NP_996816.2:n.14792-65_14792-64insT
NM_206933.4:c.14792-65_14792-64insT MANE Select	NP_996816.3:n.14792-65_14792-64insT