Canonical Allele Identifier: CA1948243204

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572902_2572903delinsTG , CM000673.2:g.2572902_2572903delinsTG	GRCh38
NC_000011.9:g.2594132_2594133delinsTG , CM000673.1:g.2594132_2594133delinsTG	GRCh37
NC_000011.8:g.2550708_2550709delinsTG	NCBI36
NG_008935.1:g.132912_132913delinsTG , LRG_287:g.132912_132913delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.576_577delinsTG	ENSP00000434560.2:p.Phe192=
ENST00000646564.2:c.478-10533_478-10532delinsTG	ENSP00000495806.2:n.478-10533_478-10532delinsTG
ENST00000155840.12:c.837_838delinsTG MANE Select	ENSP00000155840.2:p.Phe279=
ENST00000335475.6:c.456_457delinsTG	ENSP00000334497.5:p.Phe152=
ENST00000646564.1:c.124-10533_124-10532delinsTG	ENSP00000495806.1:n.124-10533_124-10532delinsTG
ENST00000155840.9:c.837_838delinsTG	ENSP00000155840.2:p.Phe279=
ENST00000335475.5:c.456_457delinsTG	ENSP00000334497.5:p.Phe152=
ENST00000496887.6:c.576_577delinsTG	ENSP00000434560.1:p.Phe192=
NM_000218.2:c.837_838delinsTG , LRG_287t1:c.837_838delinsTG	NP_000209.2:p.Phe279=
NM_181798.1:c.456_457delinsTG , LRG_287t2:c.456_457delinsTG	NP_861463.1:p.Phe152=
NM_000218.3:c.837_838delinsTG MANE Select	NP_000209.2:p.Phe279=