Canonical Allele Identifier: CA1948242662

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572033_2572034delinsTC , CM000673.2:g.2572033_2572034delinsTC	GRCh38
NC_000011.9:g.2593263_2593264delinsTC , CM000673.1:g.2593263_2593264delinsTC	GRCh37
NC_000011.8:g.2549839_2549840delinsTC	NCBI36
NG_008935.1:g.132043_132044delinsTC , LRG_287:g.132043_132044delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.443_444delinsTC	ENSP00000434560.2:p.Ile148=
ENST00000646564.2:c.478-11402_478-11401delinsTC	ENSP00000495806.2:n.478-11402_478-11401delinsTC
ENST00000155840.12:c.704_705delinsTC MANE Select	ENSP00000155840.2:p.Ile235=
ENST00000335475.6:c.323_324delinsTC	ENSP00000334497.5:p.Ile108=
ENST00000646564.1:c.124-11402_124-11401delinsTC	ENSP00000495806.1:n.124-11402_124-11401delinsTC
ENST00000155840.9:c.704_705delinsTC	ENSP00000155840.2:p.Ile235=
ENST00000335475.5:c.323_324delinsTC	ENSP00000334497.5:p.Ile108=
ENST00000496887.6:c.443_444delinsTC	ENSP00000434560.1:p.Ile148=
NM_000218.2:c.704_705delinsTC , LRG_287t1:c.704_705delinsTC	NP_000209.2:p.Ile235=
NM_181798.1:c.323_324delinsTC , LRG_287t2:c.323_324delinsTC	NP_861463.1:p.Ile108=
NM_000218.3:c.704_705delinsTC MANE Select	NP_000209.2:p.Ile235=