Canonical Allele Identifier: CA1948225016

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583507_2583509delinsTTC , CM000673.2:g.2583507_2583509delinsTTC	GRCh38
NC_000011.9:g.2604737_2604739delinsTTC , CM000673.1:g.2604737_2604739delinsTTC	GRCh37
NC_000011.8:g.2561313_2561315delinsTTC	NCBI36
NG_008935.1:g.143517_143519delinsTTC , LRG_287:g.143517_143519delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.733_735delinsTTC	ENSP00000434560.2:p.Phe245=
ENST00000646564.2:c.550_552delinsTTC	ENSP00000495806.2:p.Phe184=
ENST00000155840.12:c.994_996delinsTTC MANE Select	ENSP00000155840.2:p.Phe332=
ENST00000335475.6:c.613_615delinsTTC	ENSP00000334497.5:p.Phe205=
ENST00000646564.1:c.196_198delinsTTC	ENSP00000495806.1:p.Phe66=
ENST00000155840.9:c.994_996delinsTTC	ENSP00000155840.2:p.Phe332=
ENST00000335475.5:c.613_615delinsTTC	ENSP00000334497.5:p.Phe205=
NM_000218.2:c.994_996delinsTTC , LRG_287t1:c.994_996delinsTTC	NP_000209.2:p.Phe332=
NM_181798.1:c.613_615delinsTTC , LRG_287t2:c.613_615delinsTTC	NP_861463.1:p.Phe205=
NM_000218.3:c.994_996delinsTTC MANE Select	NP_000209.2:p.Phe332=