Canonical Allele Identifier: CA1220416684
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782082_215782083delinsAG , CM000663.2:g.215782082_215782083delinsAG GRCh38
NC_000001.10:g.215955424_215955425delinsAG , CM000663.1:g.215955424_215955425delinsAG GRCh37
NC_000001.9:g.214022047_214022048delinsAG NCBI36
NG_009497.1:g.646314_646315delinsCT
NG_009497.2:g.646366_646367delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10699_10700delinsCT MANE Select ENSP00000305941.3:p.Leu3567=
ENST00000674083.1:c.10699_10700delinsCT ENSP00000501296.1:p.Leu3567=
ENST00000307340.7:c.10699_10700delinsCT ENSP00000305941.3:p.Leu3567=
NM_206933.2:c.10699_10700delinsCT NP_996816.2:p.Leu3567=
NM_206933.3:c.10699_10700delinsCT NP_996816.2:p.Leu3567=
NM_206933.4:c.10699_10700delinsCT MANE Select NP_996816.3:p.Leu3567=
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