Canonical Allele Identifier: CA1948160853
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445171_2445172delinsCG , CM000673.2:g.2445171_2445172delinsCG GRCh38
NC_000011.9:g.2466401_2466402delinsCG , CM000673.1:g.2466401_2466402delinsCG GRCh37
NC_000011.8:g.2422977_2422978delinsCG NCBI36
NG_008935.1:g.5181_5182delinsCG , LRG_287:g.5181_5182delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-212_24-211delinsCG ENSP00000434560.2:n.24-212_24-211delinsCG
ENST00000646564.2:c.73_74delinsCG ENSP00000495806.2:p.Arg25=
ENST00000155840.12:c.73_74delinsCG MANE Select ENSP00000155840.2:p.Arg25=
ENST00000155840.9:c.73_74delinsCG ENSP00000155840.2:p.Arg25=
ENST00000496887.6:c.24-212_24-211delinsCG ENSP00000434560.1:n.24-212_24-211delinsCG
NM_000218.2:c.73_74delinsCG , LRG_287t1:c.73_74delinsCG NP_000209.2:p.Arg25=
NM_000218.3:c.73_74delinsCG MANE Select NP_000209.2:p.Arg25=
Search 100 bp 5'
Search 100 bp 3'