Canonical Allele Identifier: CA1948159955
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444726_2444738delinsTGGGGGTGGGGGC , CM000673.2:g.2444726_2444738delinsTGGGGGTGGGGGC GRCh38
NC_000011.9:g.2465956_2465968delinsTGGGGGTGGGGGC , CM000673.1:g.2465956_2465968delinsTGGGGGTGGGGGC GRCh37
NC_000011.8:g.2422532_2422544delinsTGGGGGTGGGGGC NCBI36
NG_008935.1:g.4736_4748delinsTGGGGGTGGGGGC , LRG_287:g.4736_4748delinsTGGGGGTGGGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+18_23+30delinsTGGGGGTGGGGGC ENSP00000434560.2:n.23+18_23+30delinsTGGGGGTGGGGGC
ENST00000496887.6:c.23+18_23+30delinsTGGGGGTGGGGGC ENSP00000434560.1:n.23+18_23+30delinsTGGGGGTGGGGGC