Canonical Allele Identifier: CA2553206987
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444764_2444883del , CM000673.2:g.2444764_2444883del GRCh38
NC_000011.9:g.2465994_2466113del , CM000673.1:g.2465994_2466113del GRCh37
NC_000011.8:g.2422570_2422689del NCBI36
NG_008935.1:g.4774_4893del , LRG_287:g.4774_4893del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+56_23+175del ENSP00000434560.2:n.23+56_23+175del
ENST00000496887.6:c.23+56_23+175del ENSP00000434560.1:n.23+56_23+175del