Canonical Allele Identifier: CA1220455636
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215866972_215866974delinsCAA , CM000663.2:g.215866972_215866974delinsCAA GRCh38
NC_000001.10:g.216040314_216040316delinsCAA , CM000663.1:g.216040314_216040316delinsCAA GRCh37
NC_000001.9:g.214106937_214106939delinsCAA NCBI36
NG_009497.1:g.561423_561425delinsTTG
NG_009497.2:g.561475_561477delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8845+33_8845+35delinsTTG MANE Select ENSP00000305941.3:n.8845+33_8845+35delinsTTG
ENST00000674083.1:c.8845+33_8845+35delinsTTG ENSP00000501296.1:n.8845+33_8845+35delinsTTG
ENST00000307340.7:c.8845+33_8845+35delinsTTG ENSP00000305941.3:n.8845+33_8845+35delinsTTG
NM_206933.2:c.8845+33_8845+35delinsTTG NP_996816.2:n.8845+33_8845+35delinsTTG
NM_206933.3:c.8845+33_8845+35delinsTTG NP_996816.2:n.8845+33_8845+35delinsTTG
NM_206933.4:c.8845+33_8845+35delinsTTG MANE Select NP_996816.3:n.8845+33_8845+35delinsTTG
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