Canonical Allele Identifier: CA1220455611
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215866920_215866921delinsGT , CM000663.2:g.215866920_215866921delinsGT GRCh38
NC_000001.10:g.216040262_216040263delinsGT , CM000663.1:g.216040262_216040263delinsGT GRCh37
NC_000001.9:g.214106885_214106886delinsGT NCBI36
NG_009497.1:g.561476_561477delinsAC
NG_009497.2:g.561528_561529delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8845+86_8845+87delinsAC MANE Select ENSP00000305941.3:n.8845+86_8845+87delinsAC
ENST00000674083.1:c.8845+86_8845+87delinsAC ENSP00000501296.1:n.8845+86_8845+87delinsAC
ENST00000307340.7:c.8845+86_8845+87delinsAC ENSP00000305941.3:n.8845+86_8845+87delinsAC
NM_206933.2:c.8845+86_8845+87delinsAC NP_996816.2:n.8845+86_8845+87delinsAC
NM_206933.3:c.8845+86_8845+87delinsAC NP_996816.2:n.8845+86_8845+87delinsAC
NM_206933.4:c.8845+86_8845+87delinsAC MANE Select NP_996816.3:n.8845+86_8845+87delinsAC