Canonical Allele Identifier: CA2839576013

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570671_2570672del , CM000673.2:g.2570671_2570672del	GRCh38
NC_000011.9:g.2591901_2591902del , CM000673.1:g.2591901_2591902del	GRCh37
NC_000011.8:g.2548477_2548478del	NCBI36
NG_008935.1:g.130681_130682del , LRG_287:g.130681_130682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.260_261del	ENSP00000434560.2:p.Arg87ProfsTer?
ENST00000646564.2:c.478-12764_478-12763del	ENSP00000495806.2:n.478-12764_478-12763del
ENST00000155840.12:c.521_522del MANE Select	ENSP00000155840.2:p.Arg174ProfsTer?
ENST00000335475.6:c.140_141del	ENSP00000334497.5:p.Arg47ProfsTer?
ENST00000646564.1:c.124-12764_124-12763del	ENSP00000495806.1:n.124-12764_124-12763del
ENST00000155840.9:c.521_522del	ENSP00000155840.2:p.Arg174ProfsTer?
ENST00000335475.5:c.140_141del	ENSP00000334497.5:p.Arg47ProfsTer?
ENST00000496887.6:c.260_261del	ENSP00000434560.1:p.Arg87ProfsTer?
NM_000218.2:c.521_522del , LRG_287t1:c.521_522del	NP_000209.2:p.Arg174ProfsTer?
NM_181798.1:c.140_141del , LRG_287t2:c.140_141del	NP_861463.1:p.Arg47ProfsTer?
NM_000218.3:c.521_522del MANE Select	NP_000209.2:p.Arg174ProfsTer?