Canonical Allele Identifier: CA2586968189
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675533_215675535delinsTTA , CM000663.2:g.215675533_215675535delinsTTA GRCh38
NC_000001.10:g.215848875_215848877delinsTTA , CM000663.1:g.215848875_215848877delinsTTA GRCh37
NC_000001.9:g.213915498_213915500delinsTTA NCBI36
NG_009497.1:g.752862_752864delinsTAA
NG_009497.2:g.752914_752916delinsTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12376_12378delinsTAA MANE Select ENSP00000305941.3:p.Thr4126Ter
ENST00000674083.1:c.12376_12378delinsTAA ENSP00000501296.1:p.Thr4126Ter
ENST00000307340.7:c.12376_12378delinsTAA ENSP00000305941.3:p.Thr4126Ter
NM_206933.2:c.12376_12378delinsTAA NP_996816.2:p.Thr4126Ter
NM_206933.3:c.12376_12378delinsTAA NP_996816.2:p.Thr4126Ter
NM_206933.4:c.12376_12378delinsTAA MANE Select NP_996816.3:p.Thr4126Ter
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