Canonical Allele Identifier: CA1220359782

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640800_215640803delinsTAAA , CM000663.2:g.215640800_215640803delinsTAAA	GRCh38
NC_000001.10:g.215814142_215814145delinsTAAA , CM000663.1:g.215814142_215814145delinsTAAA	GRCh37
NC_000001.9:g.213880765_213880768delinsTAAA	NCBI36
NG_009497.1:g.787594_787597delinsTTTA
NG_009497.2:g.787646_787649delinsTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-69_14792-66delinsTTTA MANE Select	ENSP00000305941.3:n.14792-69_14792-66delinsTTTA
ENST00000674083.1:c.14792-69_14792-66delinsTTTA	ENSP00000501296.1:n.14792-69_14792-66delinsTTTA
ENST00000307340.7:c.14792-69_14792-66delinsTTTA	ENSP00000305941.3:n.14792-69_14792-66delinsTTTA
NM_206933.2:c.14792-69_14792-66delinsTTTA	NP_996816.2:n.14792-69_14792-66delinsTTTA
NM_206933.3:c.14792-69_14792-66delinsTTTA	NP_996816.2:n.14792-69_14792-66delinsTTTA
NM_206933.4:c.14792-69_14792-66delinsTTTA MANE Select	NP_996816.3:n.14792-69_14792-66delinsTTTA