Canonical Allele Identifier: CA1012201728
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v3: 1-215728582-G-GACACACATACACACAC
gnomAD v4: 1-215728582-G-GACACACATACACACAC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728589_215728590insTACACACACACACACA , CM000663.2:g.215728589_215728590insTACACACACACACACA GRCh38
NC_000001.10:g.215901931_215901932insTACACACACACACACA , CM000663.1:g.215901931_215901932insTACACACACACACACA GRCh37
NC_000001.9:g.213968554_213968555insTACACACACACACACA NCBI36
NG_009497.1:g.699814_699815insGTGTGTGTATGTGTGT
NG_009497.2:g.699866_699867insGTGTGTGTATGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-199_11712-198insGTGTGTGTATGTGTGT MANE Select ENSP00000305941.3:n.11712-199_11712-198insGTGTGTGTATGTGTGT
ENST00000674083.1:c.11712-199_11712-198insGTGTGTGTATGTGTGT ENSP00000501296.1:n.11712-199_11712-198insGTGTGTGTATGTGTGT
ENST00000307340.7:c.11712-199_11712-198insGTGTGTGTATGTGTGT ENSP00000305941.3:n.11712-199_11712-198insGTGTGTGTATGTGTGT
NM_206933.2:c.11712-199_11712-198insGTGTGTGTATGTGTGT NP_996816.2:n.11712-199_11712-198insGTGTGTGTATGTGTGT
NM_206933.3:c.11712-199_11712-198insGTGTGTGTATGTGTGT NP_996816.2:n.11712-199_11712-198insGTGTGTGTATGTGTGT
NM_206933.4:c.11712-199_11712-198insGTGTGTGTATGTGTGT MANE Select NP_996816.3:n.11712-199_11712-198insGTGTGTGTATGTGTGT
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