Canonical Allele Identifier: CA1148458381
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215866973_215866975delinsAAA , CM000663.2:g.215866973_215866975delinsAAA GRCh38
NC_000001.10:g.216040315_216040317delinsAAA , CM000663.1:g.216040315_216040317delinsAAA GRCh37
NC_000001.9:g.214106938_214106940delinsAAA NCBI36
NG_009497.1:g.561422_561424delinsTTT
NG_009497.2:g.561474_561476delinsTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8845+32_8845+34delinsTTT MANE Select ENSP00000305941.3:n.8845+32_8845+34delinsTTT
ENST00000674083.1:c.8845+32_8845+34delinsTTT ENSP00000501296.1:n.8845+32_8845+34delinsTTT
ENST00000307340.7:c.8845+32_8845+34delinsTTT ENSP00000305941.3:n.8845+32_8845+34delinsTTT
NM_206933.2:c.8845+32_8845+34delinsTTT NP_996816.2:n.8845+32_8845+34delinsTTT
NM_206933.3:c.8845+32_8845+34delinsTTT NP_996816.2:n.8845+32_8845+34delinsTTT
NM_206933.4:c.8845+32_8845+34delinsTTT MANE Select NP_996816.3:n.8845+32_8845+34delinsTTT
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