Canonical Allele Identifier: CA1948159998
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444738_2444739delinsCG , CM000673.2:g.2444738_2444739delinsCG GRCh38
NC_000011.9:g.2465968_2465969delinsCG , CM000673.1:g.2465968_2465969delinsCG GRCh37
NC_000011.8:g.2422544_2422545delinsCG NCBI36
NG_008935.1:g.4748_4749delinsCG , LRG_287:g.4748_4749delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+30_23+31delinsCG ENSP00000434560.2:n.23+30_23+31delinsCG
ENST00000496887.6:c.23+30_23+31delinsCG ENSP00000434560.1:n.23+30_23+31delinsCG