Canonical Allele Identifier: CA1948233303

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587628_2587629delinsTC , CM000673.2:g.2587628_2587629delinsTC	GRCh38
NC_000011.9:g.2608858_2608859delinsTC , CM000673.1:g.2608858_2608859delinsTC	GRCh37
NC_000011.8:g.2565434_2565435delinsTC	NCBI36
NG_008935.1:g.147638_147639delinsTC , LRG_287:g.147638_147639delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.830_831delinsTC	ENSP00000434560.2:p.Ile277=
ENST00000646564.2:c.647_648delinsTC	ENSP00000495806.2:p.Ile216=
ENST00000155840.12:c.1187_1188delinsTC MANE Select	ENSP00000155840.2:p.Ile396=
ENST00000335475.6:c.806_807delinsTC	ENSP00000334497.5:p.Ile269=
ENST00000646564.1:c.293_294delinsTC	ENSP00000495806.1:p.Ile98=
ENST00000155840.9:c.1187_1188delinsTC	ENSP00000155840.2:p.Ile396=
ENST00000335475.5:c.806_807delinsTC	ENSP00000334497.5:p.Ile269=
NM_000218.2:c.1187_1188delinsTC , LRG_287t1:c.1187_1188delinsTC	NP_000209.2:p.Ile396=
NM_181798.1:c.806_807delinsTC , LRG_287t2:c.806_807delinsTC	NP_861463.1:p.Ile269=
NM_000218.3:c.1187_1188delinsTC MANE Select	NP_000209.2:p.Ile396=