Canonical Allele Identifier: CA2611999383
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444888_2445000del , CM000673.2:g.2444888_2445000del GRCh38
NC_000011.9:g.2466118_2466230del , CM000673.1:g.2466118_2466230del GRCh37
NC_000011.8:g.2422694_2422806del NCBI36
NG_008935.1:g.4898_5010del , LRG_287:g.4898_5010del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+180_23+292del ENSP00000434560.2:n.23+180_23+292del
ENST00000496887.6:c.23+180_23+292del ENSP00000434560.1:n.23+180_23+292del