Canonical Allele Identifier: CA1012201755
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1659901669
gnomAD v3: 1-215728586-C-CACACACACACACAT
gnomAD v4: 1-215728586-C-CACACACACACACAT
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728599_215728600insTACACACACACACA , CM000663.2:g.215728599_215728600insTACACACACACACA GRCh38
NC_000001.10:g.215901941_215901942insTACACACACACACA , CM000663.1:g.215901941_215901942insTACACACACACACA GRCh37
NC_000001.9:g.213968564_213968565insTACACACACACACA NCBI36
NG_009497.1:g.699810_699811insATGTGTGTGTGTGT
NG_009497.2:g.699862_699863insATGTGTGTGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-203_11712-202insATGTGTGTGTGTGT MANE Select ENSP00000305941.3:n.11712-203_11712-202insATGTGTGTGTGTGT
ENST00000674083.1:c.11712-203_11712-202insATGTGTGTGTGTGT ENSP00000501296.1:n.11712-203_11712-202insATGTGTGTGTGTGT
ENST00000307340.7:c.11712-203_11712-202insATGTGTGTGTGTGT ENSP00000305941.3:n.11712-203_11712-202insATGTGTGTGTGTGT
NM_206933.2:c.11712-203_11712-202insATGTGTGTGTGTGT NP_996816.2:n.11712-203_11712-202insATGTGTGTGTGTGT
NM_206933.3:c.11712-203_11712-202insATGTGTGTGTGTGT NP_996816.2:n.11712-203_11712-202insATGTGTGTGTGTGT
NM_206933.4:c.11712-203_11712-202insATGTGTGTGTGTGT MANE Select NP_996816.3:n.11712-203_11712-202insATGTGTGTGTGTGT
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