Canonical Allele Identifier: CA2612003214

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2585354-ATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585358_2585360del , CM000673.2:g.2585358_2585360del	GRCh38
NC_000011.9:g.2606588_2606590del , CM000673.1:g.2606588_2606590del	GRCh37
NC_000011.8:g.2563164_2563166del	NCBI36
NG_008935.1:g.145368_145370del , LRG_287:g.145368_145370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1813_771+1815del	ENSP00000434560.2:n.771+1813_771+1815del
ENST00000646564.2:c.588+1813_588+1815del	ENSP00000495806.2:n.588+1813_588+1815del
ENST00000155840.12:c.1128+51_1128+53del MANE Select	ENSP00000155840.2:n.1128+51_1128+53del
ENST00000335475.6:c.747+51_747+53del	ENSP00000334497.5:n.747+51_747+53del
ENST00000646564.1:c.234+1813_234+1815del	ENSP00000495806.1:n.234+1813_234+1815del
ENST00000155840.9:c.1128+51_1128+53del	ENSP00000155840.2:n.1128+51_1128+53del
ENST00000335475.5:c.747+51_747+53del	ENSP00000334497.5:n.747+51_747+53del
NM_000218.2:c.1128+51_1128+53del , LRG_287t1:c.1128+51_1128+53del	NP_000209.2:n.1128+51_1128+53del
NM_181798.1:c.747+51_747+53del , LRG_287t2:c.747+51_747+53del	NP_861463.1:n.747+51_747+53del
NM_000218.3:c.1128+51_1128+53del MANE Select	NP_000209.2:n.1128+51_1128+53del