Canonical Allele Identifier: CA1948159931
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444720_2444721delinsCG , CM000673.2:g.2444720_2444721delinsCG GRCh38
NC_000011.9:g.2465950_2465951delinsCG , CM000673.1:g.2465950_2465951delinsCG GRCh37
NC_000011.8:g.2422526_2422527delinsCG NCBI36
NG_008935.1:g.4730_4731delinsCG , LRG_287:g.4730_4731delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+12_23+13delinsCG ENSP00000434560.2:n.23+12_23+13delinsCG
ENST00000496887.6:c.23+12_23+13delinsCG ENSP00000434560.1:n.23+12_23+13delinsCG