Canonical Allele Identifier: CA2611999317
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444814_2444816del , CM000673.2:g.2444814_2444816del GRCh38
NC_000011.9:g.2466044_2466046del , CM000673.1:g.2466044_2466046del GRCh37
NC_000011.8:g.2422620_2422622del NCBI36
NG_008935.1:g.4824_4826del , LRG_287:g.4824_4826del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+106_23+108del ENSP00000434560.2:n.23+106_23+108del
ENST00000496887.6:c.23+106_23+108del ENSP00000434560.1:n.23+106_23+108del