Canonical Allele Identifier: CA1948196746

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527942_2527943delinsTG , CM000673.2:g.2527942_2527943delinsTG	GRCh38
NC_000011.9:g.2549172_2549173delinsTG , CM000673.1:g.2549172_2549173delinsTG	GRCh37
NC_000011.8:g.2505748_2505749delinsTG	NCBI36
NG_008935.1:g.87952_87953delinsTG , LRG_287:g.87952_87953delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.198_199delinsTG
ENST00000496887.7:c.140_141delinsTG	ENSP00000434560.2:p.Leu47=
ENST00000646564.2:c.401_402delinsTG	ENSP00000495806.2:p.Leu134=
ENST00000155840.12:c.401_402delinsTG MANE Select	ENSP00000155840.2:p.Leu134=
ENST00000335475.6:c.20_21delinsTG	ENSP00000334497.5:p.Leu7=
ENST00000646564.1:c.47_48delinsTG	ENSP00000495806.1:p.Leu16=
ENST00000155840.9:c.401_402delinsTG	ENSP00000155840.2:p.Leu134=
ENST00000335475.5:c.20_21delinsTG	ENSP00000334497.5:p.Leu7=
ENST00000345015.4:n.270_271delinsTG
ENST00000380776.4:c.191_192delinsTG	ENSP00000370153.4:p.Leu64=
ENST00000496887.6:c.140_141delinsTG	ENSP00000434560.1:p.Leu47=
NM_000218.2:c.401_402delinsTG , LRG_287t1:c.401_402delinsTG	NP_000209.2:p.Leu134=
NM_181798.1:c.20_21delinsTG , LRG_287t2:c.20_21delinsTG	NP_861463.1:p.Leu7=
NM_000218.3:c.401_402delinsTG MANE Select	NP_000209.2:p.Leu134=