Canonical Allele Identifier: CA1220396667
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1189155666
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728581_215728582insCACACACACACACACA , CM000663.2:g.215728581_215728582insCACACACACACACACA GRCh38
NC_000001.10:g.215901923_215901924insCACACACACACACACA , CM000663.1:g.215901923_215901924insCACACACACACACACA GRCh37
NC_000001.9:g.213968546_213968547insCACACACACACACACA NCBI36
NG_009497.1:g.699815_699816insTGTGTGTGTGTGTGTG
NG_009497.2:g.699867_699868insTGTGTGTGTGTGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-198_11712-197insTGTGTGTGTGTGTGTG MANE Select ENSP00000305941.3:n.11712-198_11712-197insTGTGTGTGTGTGTGTG
ENST00000674083.1:c.11712-198_11712-197insTGTGTGTGTGTGTGTG ENSP00000501296.1:n.11712-198_11712-197insTGTGTGTGTGTGTGTG
ENST00000307340.7:c.11712-198_11712-197insTGTGTGTGTGTGTGTG ENSP00000305941.3:n.11712-198_11712-197insTGTGTGTGTGTGTGTG
NM_206933.2:c.11712-198_11712-197insTGTGTGTGTGTGTGTG NP_996816.2:n.11712-198_11712-197insTGTGTGTGTGTGTGTG
NM_206933.3:c.11712-198_11712-197insTGTGTGTGTGTGTGTG NP_996816.2:n.11712-198_11712-197insTGTGTGTGTGTGTGTG
NM_206933.4:c.11712-198_11712-197insTGTGTGTGTGTGTGTG MANE Select NP_996816.3:n.11712-198_11712-197insTGTGTGTGTGTGTGTG
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