Canonical Allele Identifier: CA2612002984

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2585223-CTCGGGGTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585224_2585232del , CM000673.2:g.2585224_2585232del	GRCh38
NC_000011.9:g.2606454_2606462del , CM000673.1:g.2606454_2606462del	GRCh37
NC_000011.8:g.2563030_2563038del	NCBI36
NG_008935.1:g.145234_145242del , LRG_287:g.145234_145242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1679_771+1687del	ENSP00000434560.2:n.771+1679_771+1687del
ENST00000646564.2:c.588+1679_588+1687del	ENSP00000495806.2:n.588+1679_588+1687del
ENST00000155840.12:c.1045_1053del MANE Select	ENSP00000155840.2:p.Ser349_Phe351del
ENST00000335475.6:c.664_672del	ENSP00000334497.5:p.Ser222_Phe224del
ENST00000646564.1:c.234+1679_234+1687del	ENSP00000495806.1:n.234+1679_234+1687del
ENST00000155840.9:c.1045_1053del	ENSP00000155840.2:p.Ser349_Phe351del
ENST00000335475.5:c.664_672del	ENSP00000334497.5:p.Ser222_Phe224del
NM_000218.2:c.1045_1053del , LRG_287t1:c.1045_1053del	NP_000209.2:p.Ser349_Phe351del
NM_181798.1:c.664_672del , LRG_287t2:c.664_672del	NP_861463.1:p.Ser222_Phe224del
NM_000218.3:c.1045_1053del MANE Select	NP_000209.2:p.Ser349_Phe351del