Canonical Allele Identifier: CA1948239796

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570711_2570712delinsCT , CM000673.2:g.2570711_2570712delinsCT	GRCh38
NC_000011.9:g.2591941_2591942delinsCT , CM000673.1:g.2591941_2591942delinsCT	GRCh37
NC_000011.8:g.2548517_2548518delinsCT	NCBI36
NG_008935.1:g.130721_130722delinsCT , LRG_287:g.130721_130722delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.300_301delinsCT	ENSP00000434560.2:p.Leu100=
ENST00000646564.2:c.478-12724_478-12723delinsCT	ENSP00000495806.2:n.478-12724_478-12723delinsCT
ENST00000155840.12:c.561_562delinsCT MANE Select	ENSP00000155840.2:p.Leu187=
ENST00000335475.6:c.180_181delinsCT	ENSP00000334497.5:p.Leu60=
ENST00000646564.1:c.124-12724_124-12723delinsCT	ENSP00000495806.1:n.124-12724_124-12723delinsCT
ENST00000155840.9:c.561_562delinsCT	ENSP00000155840.2:p.Leu187=
ENST00000335475.5:c.180_181delinsCT	ENSP00000334497.5:p.Leu60=
ENST00000496887.6:c.300_301delinsCT	ENSP00000434560.1:p.Leu100=
NM_000218.2:c.561_562delinsCT , LRG_287t1:c.561_562delinsCT	NP_000209.2:p.Leu187=
NM_181798.1:c.180_181delinsCT , LRG_287t2:c.180_181delinsCT	NP_861463.1:p.Leu60=
NM_000218.3:c.561_562delinsCT MANE Select	NP_000209.2:p.Leu187=