Canonical Allele Identifier: CA1948160850
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445167_2445170delinsCCGG , CM000673.2:g.2445167_2445170delinsCCGG GRCh38
NC_000011.9:g.2466397_2466400delinsCCGG , CM000673.1:g.2466397_2466400delinsCCGG GRCh37
NC_000011.8:g.2422973_2422976delinsCCGG NCBI36
NG_008935.1:g.5177_5180delinsCCGG , LRG_287:g.5177_5180delinsCCGG

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-216_24-213delinsCCGG ENSP00000434560.2:n.24-216_24-213delinsCCGG
ENST00000646564.2:c.69_72delinsCCGG ENSP00000495806.2:p.Ala23=
ENST00000155840.12:c.69_72delinsCCGG MANE Select ENSP00000155840.2:p.Ala23=
ENST00000155840.9:c.69_72delinsCCGG ENSP00000155840.2:p.Ala23=
ENST00000496887.6:c.24-216_24-213delinsCCGG ENSP00000434560.1:n.24-216_24-213delinsCCGG
NM_000218.2:c.69_72delinsCCGG , LRG_287t1:c.69_72delinsCCGG NP_000209.2:p.Ala23=
NM_000218.3:c.69_72delinsCCGG MANE Select NP_000209.2:p.Ala23=
Search 100 bp 5'
Search 100 bp 3'