Canonical Allele Identifier: CA1948196550

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527749_2527750delinsAT , CM000673.2:g.2527749_2527750delinsAT	GRCh38
NC_000011.9:g.2548979_2548980delinsAT , CM000673.1:g.2548979_2548980delinsAT	GRCh37
NC_000011.8:g.2505555_2505556delinsAT	NCBI36
NG_008935.1:g.87759_87760delinsAT , LRG_287:g.87759_87760delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.184-179_184-178delinsAT
ENST00000496887.7:c.126-179_126-178delinsAT	ENSP00000434560.2:n.126-179_126-178delinsAT
ENST00000646564.2:c.387-179_387-178delinsAT	ENSP00000495806.2:n.387-179_387-178delinsAT
ENST00000155840.12:c.387-179_387-178delinsAT MANE Select	ENSP00000155840.2:n.387-179_387-178delinsAT
ENST00000335475.6:c.6-179_6-178delinsAT	ENSP00000334497.5:n.6-179_6-178delinsAT
ENST00000646564.1:c.33-179_33-178delinsAT	ENSP00000495806.1:n.33-179_33-178delinsAT
ENST00000155840.9:c.387-179_387-178delinsAT	ENSP00000155840.2:n.387-179_387-178delinsAT
ENST00000335475.5:c.6-179_6-178delinsAT	ENSP00000334497.5:n.6-179_6-178delinsAT
ENST00000345015.4:n.256-179_256-178delinsAT
ENST00000380776.4:c.177-179_177-178delinsAT	ENSP00000370153.4:n.177-179_177-178delinsAT
ENST00000496887.6:c.126-179_126-178delinsAT	ENSP00000434560.1:n.126-179_126-178delinsAT
NM_000218.2:c.387-179_387-178delinsAT , LRG_287t1:c.387-179_387-178delinsAT	NP_000209.2:n.387-179_387-178delinsAT
NM_181798.1:c.6-179_6-178delinsAT , LRG_287t2:c.6-179_6-178delinsAT	NP_861463.1:n.6-179_6-178delinsAT
NM_000218.3:c.387-179_387-178delinsAT MANE Select	NP_000209.2:n.387-179_387-178delinsAT