Canonical Allele Identifier: CA645569427

Gene: KCNQ1 KCNQ1OT1

Linked Data

• COSMIC: COSM5966943 ; COSM5966944

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662038_2662058del , CM000673.2:g.2662038_2662058del	GRCh38
NC_000011.9:g.2683268_2683288del , CM000673.1:g.2683268_2683288del	GRCh37
NC_000011.8:g.2639844_2639864del	NCBI36
NG_008935.1:g.222048_222068del , LRG_287:g.222048_222068del
NG_016178.2:g.42941_42961del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1114_1134del (KCNQ1)	ENSP00000434560.2:p.Leu372_Leu378del
ENST00000646564.2:c.931_951del (KCNQ1)	ENSP00000495806.2:p.Leu311_Leu317del
ENST00000155840.12:c.1471_1491del (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu491_Leu497del
ENST00000335475.6:c.1090_1110del (KCNQ1)	ENSP00000334497.5:p.Leu364_Leu370del
ENST00000646564.1:c.577_597del (KCNQ1)	ENSP00000495806.1:p.Leu193_Leu199del
ENST00000155840.9:c.1471_1491del (KCNQ1)	ENSP00000155840.2:p.Leu491_Leu497del
ENST00000335475.5:c.1090_1110del (KCNQ1)	ENSP00000334497.5:p.Leu364_Leu370del
NM_000218.2:c.1471_1491del , LRG_287t1:c.1471_1491del (KCNQ1)	NP_000209.2:p.Leu491_Leu497del
NM_181798.1:c.1090_1110del , LRG_287t2:c.1090_1110del (KCNQ1)	NP_861463.1:p.Leu364_Leu370del
NR_002728.3:n.37941_37961del (KCNQ1OT1)
NM_000218.3:c.1471_1491del (KCNQ1) MANE Select	NP_000209.2:p.Leu491_Leu497del