Canonical Allele Identifier: CA1948242715

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572061_2572071delinsGGGAGGCACCT , CM000673.2:g.2572061_2572071delinsGGGAGGCACCT	GRCh38
NC_000011.9:g.2593291_2593301delinsGGGAGGCACCT , CM000673.1:g.2593291_2593301delinsGGGAGGCACCT	GRCh37
NC_000011.8:g.2549867_2549877delinsGGGAGGCACCT	NCBI36
NG_008935.1:g.132071_132081delinsGGGAGGCACCT , LRG_287:g.132071_132081delinsGGGAGGCACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.471_481delinsGGGAGGCACCT	ENSP00000434560.2:p.Gln157=
ENST00000646564.2:c.478-11374_478-11364delinsGGGAGGCACCT	ENSP00000495806.2:n.478-11374_478-11364delinsGGGAGGCACCT
ENST00000155840.12:c.732_742delinsGGGAGGCACCT MANE Select	ENSP00000155840.2:p.Gln244=
ENST00000335475.6:c.351_361delinsGGGAGGCACCT	ENSP00000334497.5:p.Gln117=
ENST00000646564.1:c.124-11374_124-11364delinsGGGAGGCACCT	ENSP00000495806.1:n.124-11374_124-11364delinsGGGAGGCACCT
ENST00000155840.9:c.732_742delinsGGGAGGCACCT	ENSP00000155840.2:p.Gln244=
ENST00000335475.5:c.351_361delinsGGGAGGCACCT	ENSP00000334497.5:p.Gln117=
ENST00000496887.6:c.471_481delinsGGGAGGCACCT	ENSP00000434560.1:p.Gln157=
NM_000218.2:c.732_742delinsGGGAGGCACCT , LRG_287t1:c.732_742delinsGGGAGGCACCT	NP_000209.2:p.Gln244=
NM_181798.1:c.351_361delinsGGGAGGCACCT , LRG_287t2:c.351_361delinsGGGAGGCACCT	NP_861463.1:p.Gln117=
NM_000218.3:c.732_742delinsGGGAGGCACCT MANE Select	NP_000209.2:p.Gln244=