Canonical Allele Identifier: CA1948196773

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527991_2527993delinsCCT , CM000673.2:g.2527991_2527993delinsCCT	GRCh38
NC_000011.9:g.2549221_2549223delinsCCT , CM000673.1:g.2549221_2549223delinsCCT	GRCh37
NC_000011.8:g.2505797_2505799delinsCCT	NCBI36
NG_008935.1:g.88001_88003delinsCCT , LRG_287:g.88001_88003delinsCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.189_191delinsCCT	ENSP00000434560.2:p.Ala63=
ENST00000646564.2:c.450_452delinsCCT	ENSP00000495806.2:p.Ala150=
ENST00000155840.12:c.450_452delinsCCT MANE Select	ENSP00000155840.2:p.Ala150=
ENST00000335475.6:c.69_71delinsCCT	ENSP00000334497.5:p.Ala23=
ENST00000646564.1:c.96_98delinsCCT	ENSP00000495806.1:p.Ala32=
ENST00000155840.9:c.450_452delinsCCT	ENSP00000155840.2:p.Ala150=
ENST00000335475.5:c.69_71delinsCCT	ENSP00000334497.5:p.Ala23=
ENST00000496887.6:c.189_191delinsCCT	ENSP00000434560.1:p.Ala63=
NM_000218.2:c.450_452delinsCCT , LRG_287t1:c.450_452delinsCCT	NP_000209.2:p.Ala150=
NM_181798.1:c.69_71delinsCCT , LRG_287t2:c.69_71delinsCCT	NP_861463.1:p.Ala23=
NM_000218.3:c.450_452delinsCCT MANE Select	NP_000209.2:p.Ala150=