Canonical Allele Identifier: CA1948242719

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572068_2572078delinsACCTGGAGGCT , CM000673.2:g.2572068_2572078delinsACCTGGAGGCT	GRCh38
NC_000011.9:g.2593298_2593308delinsACCTGGAGGCT , CM000673.1:g.2593298_2593308delinsACCTGGAGGCT	GRCh37
NC_000011.8:g.2549874_2549884delinsACCTGGAGGCT	NCBI36
NG_008935.1:g.132078_132088delinsACCTGGAGGCT , LRG_287:g.132078_132088delinsACCTGGAGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.478_488delinsACCTGGAGGCT	ENSP00000434560.2:p.Thr160=
ENST00000646564.2:c.478-11367_478-11357delinsACCTGGAGGCT	ENSP00000495806.2:n.478-11367_478-11357delinsACCTGGAGGCT
ENST00000155840.12:c.739_749delinsACCTGGAGGCT MANE Select	ENSP00000155840.2:p.Thr247=
ENST00000335475.6:c.358_368delinsACCTGGAGGCT	ENSP00000334497.5:p.Thr120=
ENST00000646564.1:c.124-11367_124-11357delinsACCTGGAGGCT	ENSP00000495806.1:n.124-11367_124-11357delinsACCTGGAGGCT
ENST00000155840.9:c.739_749delinsACCTGGAGGCT	ENSP00000155840.2:p.Thr247=
ENST00000335475.5:c.358_368delinsACCTGGAGGCT	ENSP00000334497.5:p.Thr120=
ENST00000496887.6:c.478_488delinsACCTGGAGGCT	ENSP00000434560.1:p.Thr160=
NM_000218.2:c.739_749delinsACCTGGAGGCT , LRG_287t1:c.739_749delinsACCTGGAGGCT	NP_000209.2:p.Thr247=
NM_181798.1:c.358_368delinsACCTGGAGGCT , LRG_287t2:c.358_368delinsACCTGGAGGCT	NP_861463.1:p.Thr120=
NM_000218.3:c.739_749delinsACCTGGAGGCT MANE Select	NP_000209.2:p.Thr247=