Canonical Allele Identifier: CA1948239356

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570637_2570638delinsCT , CM000673.2:g.2570637_2570638delinsCT	GRCh38
NC_000011.9:g.2591867_2591868delinsCT , CM000673.1:g.2591867_2591868delinsCT	GRCh37
NC_000011.8:g.2548443_2548444delinsCT	NCBI36
NG_008935.1:g.130647_130648delinsCT , LRG_287:g.130647_130648delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.226_227delinsCT	ENSP00000434560.2:p.Leu76=
ENST00000646564.2:c.478-12798_478-12797delinsCT	ENSP00000495806.2:n.478-12798_478-12797delinsCT
ENST00000155840.12:c.487_488delinsCT MANE Select	ENSP00000155840.2:p.Leu163=
ENST00000335475.6:c.106_107delinsCT	ENSP00000334497.5:p.Leu36=
ENST00000646564.1:c.124-12798_124-12797delinsCT	ENSP00000495806.1:n.124-12798_124-12797delinsCT
ENST00000155840.9:c.487_488delinsCT	ENSP00000155840.2:p.Leu163=
ENST00000335475.5:c.106_107delinsCT	ENSP00000334497.5:p.Leu36=
ENST00000496887.6:c.226_227delinsCT	ENSP00000434560.1:p.Leu76=
NM_000218.2:c.487_488delinsCT , LRG_287t1:c.487_488delinsCT	NP_000209.2:p.Leu163=
NM_181798.1:c.106_107delinsCT , LRG_287t2:c.106_107delinsCT	NP_861463.1:p.Leu36=
NM_000218.3:c.487_488delinsCT MANE Select	NP_000209.2:p.Leu163=