Canonical Allele Identifier: CA1948235752

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588789_2588790delinsTC , CM000673.2:g.2588789_2588790delinsTC	GRCh38
NC_000011.9:g.2610019_2610020delinsTC , CM000673.1:g.2610019_2610020delinsTC	GRCh37
NC_000011.8:g.2566595_2566596delinsTC	NCBI36
NG_008935.1:g.148799_148800delinsTC , LRG_287:g.148799_148800delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.971_972delinsTC	ENSP00000434560.2:p.Ile324=
ENST00000646564.2:c.788_789delinsTC	ENSP00000495806.2:p.Ile263=
ENST00000155840.12:c.1328_1329delinsTC MANE Select	ENSP00000155840.2:p.Ile443=
ENST00000335475.6:c.947_948delinsTC	ENSP00000334497.5:p.Ile316=
ENST00000646564.1:c.434_435delinsTC	ENSP00000495806.1:p.Ile145=
ENST00000155840.9:c.1328_1329delinsTC	ENSP00000155840.2:p.Ile443=
ENST00000335475.5:c.947_948delinsTC	ENSP00000334497.5:p.Ile316=
NM_000218.2:c.1328_1329delinsTC , LRG_287t1:c.1328_1329delinsTC	NP_000209.2:p.Ile443=
NM_181798.1:c.947_948delinsTC , LRG_287t2:c.947_948delinsTC	NP_861463.1:p.Ile316=
NM_000218.3:c.1328_1329delinsTC MANE Select	NP_000209.2:p.Ile443=