Canonical Allele Identifier: CA2695213194

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585263_2585265del , CM000673.2:g.2585263_2585265del	GRCh38
NC_000011.9:g.2606493_2606495del , CM000673.1:g.2606493_2606495del	GRCh37
NC_000011.8:g.2563069_2563071del	NCBI36
NG_008935.1:g.145273_145275del , LRG_287:g.145273_145275del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1718_771+1720del	ENSP00000434560.2:n.771+1718_771+1720del
ENST00000646564.2:c.588+1718_588+1720del	ENSP00000495806.2:n.588+1718_588+1720del
ENST00000155840.12:c.1084_1086del MANE Select	ENSP00000155840.2:p.Lys362del
ENST00000335475.6:c.703_705del	ENSP00000334497.5:p.Lys235del
ENST00000646564.1:c.234+1718_234+1720del	ENSP00000495806.1:n.234+1718_234+1720del
ENST00000155840.9:c.1084_1086del	ENSP00000155840.2:p.Lys362del
ENST00000335475.5:c.703_705del	ENSP00000334497.5:p.Lys235del
NM_000218.2:c.1084_1086del , LRG_287t1:c.1084_1086del	NP_000209.2:p.Lys362del
NM_181798.1:c.703_705del , LRG_287t2:c.703_705del	NP_861463.1:p.Lys235del
NM_000218.3:c.1084_1086del MANE Select	NP_000209.2:p.Lys362del