Canonical Allele Identifier: CA2611999448
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444953_2444959del , CM000673.2:g.2444953_2444959del GRCh38
NC_000011.9:g.2466183_2466189del , CM000673.1:g.2466183_2466189del GRCh37
NC_000011.8:g.2422759_2422765del NCBI36
NG_008935.1:g.4963_4969del , LRG_287:g.4963_4969del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+245_23+251del ENSP00000434560.2:n.23+245_23+251del
ENST00000496887.6:c.23+245_23+251del ENSP00000434560.1:n.23+245_23+251del