Canonical Allele Identifier: CA1220396681
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1659902070
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728606_215728607insACACACACACACACAAACACAC , CM000663.2:g.215728606_215728607insACACACACACACACAAACACAC GRCh38
NC_000001.10:g.215901948_215901949insACACACACACACACAAACACAC , CM000663.1:g.215901948_215901949insACACACACACACACAAACACAC GRCh37
NC_000001.9:g.213968571_213968572insACACACACACACACAAACACAC NCBI36
NG_009497.1:g.699796_699797insTTGTGTGTGTGTGTGTGTGTGT
NG_009497.2:g.699848_699849insTTGTGTGTGTGTGTGTGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-217_11712-216insTTGTGTGTGTGTGTGTGTGTGT MANE Select ENSP00000305941.3:n.11712-217_11712-216insTTGTGTGTGTGTGTGTGTG...
ENST00000674083.1:c.11712-217_11712-216insTTGTGTGTGTGTGTGTGTGTGT ENSP00000501296.1:n.11712-217_11712-216insTTGTGTGTGTGTGTGTGTG...
ENST00000307340.7:c.11712-217_11712-216insTTGTGTGTGTGTGTGTGTGTGT ENSP00000305941.3:n.11712-217_11712-216insTTGTGTGTGTGTGTGTGTG...
NM_206933.2:c.11712-217_11712-216insTTGTGTGTGTGTGTGTGTGTGT NP_996816.2:n.11712-217_11712-216insTTGTGTGTGTGTGTGTGTGTGT
NM_206933.3:c.11712-217_11712-216insTTGTGTGTGTGTGTGTGTGTGT NP_996816.2:n.11712-217_11712-216insTTGTGTGTGTGTGTGTGTGTGT
NM_206933.4:c.11712-217_11712-216insTTGTGTGTGTGTGTGTGTGTGT MANE Select NP_996816.3:n.11712-217_11712-216insTTGTGTGTGTGTGTGTGTGTGT
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