Canonical Allele Identifier: CA1220359892

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640996_215640997delinsAT , CM000663.2:g.215640996_215640997delinsAT	GRCh38
NC_000001.10:g.215814338_215814339delinsAT , CM000663.1:g.215814338_215814339delinsAT	GRCh37
NC_000001.9:g.213880961_213880962delinsAT	NCBI36
NG_009497.1:g.787400_787401delinsAT
NG_009497.2:g.787452_787453delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-263_14792-262delinsAT MANE Select	ENSP00000305941.3:n.14792-263_14792-262delinsAT
ENST00000674083.1:c.14792-263_14792-262delinsAT	ENSP00000501296.1:n.14792-263_14792-262delinsAT
ENST00000307340.7:c.14792-263_14792-262delinsAT	ENSP00000305941.3:n.14792-263_14792-262delinsAT
NM_206933.2:c.14792-263_14792-262delinsAT	NP_996816.2:n.14792-263_14792-262delinsAT
NM_206933.3:c.14792-263_14792-262delinsAT	NP_996816.2:n.14792-263_14792-262delinsAT
NM_206933.4:c.14792-263_14792-262delinsAT MANE Select	NP_996816.3:n.14792-263_14792-262delinsAT