Canonical Allele Identifier: CA1012201736
Gene: USH2A HGNC NCBI

Linked Data

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

HGVS Genome Assembly
NC_000001.11:g.215728583_215728584insAACACACACACACA , CM000663.2:g.215728583_215728584insAACACACACACACA GRCh38
NC_000001.10:g.215901925_215901926insAACACACACACACA , CM000663.1:g.215901925_215901926insAACACACACACACA GRCh37
NC_000001.9:g.213968548_213968549insAACACACACACACA NCBI36
NG_009497.1:g.699814_699815insGTGTGTGTGTGTTT
NG_009497.2:g.699866_699867insGTGTGTGTGTGTTT

Transcript Alleles

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