Canonical Allele Identifier: CA2574728272

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585184del , CM000673.2:g.2585184del	GRCh38
NC_000011.9:g.2606414del , CM000673.1:g.2606414del	GRCh37
NC_000011.8:g.2562990del	NCBI36
NG_008935.1:g.145194del , LRG_287:g.145194del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1639del	ENSP00000434560.2:n.771+1639del
ENST00000646564.2:c.588+1639del	ENSP00000495806.2:n.588+1639del
ENST00000155840.12:c.1033-28del MANE Select	ENSP00000155840.2:n.1033-28del
ENST00000335475.6:c.652-28del	ENSP00000334497.5:n.652-28del
ENST00000646564.1:c.234+1639del	ENSP00000495806.1:n.234+1639del
ENST00000155840.9:c.1033-28del	ENSP00000155840.2:n.1033-28del
ENST00000335475.5:c.652-28del	ENSP00000334497.5:n.652-28del
NM_000218.2:c.1033-28del , LRG_287t1:c.1033-28del	NP_000209.2:n.1033-28del
NM_181798.1:c.652-28del , LRG_287t2:c.652-28del	NP_861463.1:n.652-28del
NM_000218.3:c.1033-28del MANE Select	NP_000209.2:n.1033-28del