Canonical Allele Identifier: CA1220396671
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1311988583
gnomAD v4: 1-215728582-G-GACACACACACACACACACACACACACAC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728606_215728607insACACACACACACACACACACACACACAC , CM000663.2:g.215728606_215728607insACACACACACACACACACACACACACAC GRCh38
NC_000001.10:g.215901948_215901949insACACACACACACACACACACACACACAC , CM000663.1:g.215901948_215901949insACACACACACACACACACACACACACAC GRCh37
NC_000001.9:g.213968571_213968572insACACACACACACACACACACACACACAC NCBI36
NG_009497.1:g.699814_699815insGTGTGTGTGTGTGTGTGTGTGTGTGTGT
NG_009497.2:g.699866_699867insGTGTGTGTGTGTGTGTGTGTGTGTGTGT

Transcript Alleles

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