Canonical Allele Identifier: CA2612004514

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2588973-AACAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588979_2588982del , CM000673.2:g.2588979_2588982del	GRCh38
NC_000011.9:g.2610209_2610212del , CM000673.1:g.2610209_2610212del	GRCh37
NC_000011.8:g.2566785_2566788del	NCBI36
NG_008935.1:g.148989_148992del , LRG_287:g.148989_148992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1036+125_1036+128del	ENSP00000434560.2:n.1036+125_1036+128del
ENST00000646564.2:c.853+125_853+128del	ENSP00000495806.2:n.853+125_853+128del
ENST00000155840.12:c.1393+125_1393+128del MANE Select	ENSP00000155840.2:n.1393+125_1393+128del
ENST00000335475.6:c.1012+125_1012+128del	ENSP00000334497.5:n.1012+125_1012+128del
ENST00000646564.1:c.499+125_499+128del	ENSP00000495806.1:n.499+125_499+128del
ENST00000155840.9:c.1393+125_1393+128del	ENSP00000155840.2:n.1393+125_1393+128del
ENST00000335475.5:c.1012+125_1012+128del	ENSP00000334497.5:n.1012+125_1012+128del
NM_000218.2:c.1393+125_1393+128del , LRG_287t1:c.1393+125_1393+128del	NP_000209.2:n.1393+125_1393+128del
NM_181798.1:c.1012+125_1012+128del , LRG_287t2:c.1012+125_1012+128del	NP_861463.1:n.1012+125_1012+128del
NM_000218.3:c.1393+125_1393+128del MANE Select	NP_000209.2:n.1393+125_1393+128del