Canonical Allele Identifier: CA2790193717
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444906_2444907insGTGC , CM000673.2:g.2444906_2444907insGTGC GRCh38
NC_000011.9:g.2466136_2466137insGTGC , CM000673.1:g.2466136_2466137insGTGC GRCh37
NC_000011.8:g.2422712_2422713insGTGC NCBI36
NG_008935.1:g.4916_4917insGTGC , LRG_287:g.4916_4917insGTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+198_23+199insGTGC ENSP00000434560.2:n.23+198_23+199insGTGC
ENST00000496887.6:c.23+198_23+199insGTGC ENSP00000434560.1:n.23+198_23+199insGTGC