Canonical Allele Identifier: CA1012201761
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1659902154
gnomAD v3: 1-215728602-C-CACACACACACAT
gnomAD v4: 1-215728602-C-CACACACACACAT
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728606_215728607insACACACATACAC , CM000663.2:g.215728606_215728607insACACACATACAC GRCh38
NC_000001.10:g.215901948_215901949insACACACATACAC , CM000663.1:g.215901948_215901949insACACACATACAC GRCh37
NC_000001.9:g.213968571_213968572insACACACATACAC NCBI36
NG_009497.1:g.699794_699795insATGTGTGTGTGT
NG_009497.2:g.699846_699847insATGTGTGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-219_11712-218insATGTGTGTGTGT MANE Select ENSP00000305941.3:n.11712-219_11712-218insATGTGTGTGTGT
ENST00000674083.1:c.11712-219_11712-218insATGTGTGTGTGT ENSP00000501296.1:n.11712-219_11712-218insATGTGTGTGTGT
ENST00000307340.7:c.11712-219_11712-218insATGTGTGTGTGT ENSP00000305941.3:n.11712-219_11712-218insATGTGTGTGTGT
NM_206933.2:c.11712-219_11712-218insATGTGTGTGTGT NP_996816.2:n.11712-219_11712-218insATGTGTGTGTGT
NM_206933.3:c.11712-219_11712-218insATGTGTGTGTGT NP_996816.2:n.11712-219_11712-218insATGTGTGTGTGT
NM_206933.4:c.11712-219_11712-218insATGTGTGTGTGT MANE Select NP_996816.3:n.11712-219_11712-218insATGTGTGTGTGT
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