Canonical Allele Identifier: CA1948242722

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572072_2572073delinsGG , CM000673.2:g.2572072_2572073delinsGG	GRCh38
NC_000011.9:g.2593302_2593303delinsGG , CM000673.1:g.2593302_2593303delinsGG	GRCh37
NC_000011.8:g.2549878_2549879delinsGG	NCBI36
NG_008935.1:g.132082_132083delinsGG , LRG_287:g.132082_132083delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.482_483delinsGG	ENSP00000434560.2:p.Trp161=
ENST00000646564.2:c.478-11363_478-11362delinsGG	ENSP00000495806.2:n.478-11363_478-11362delinsGG
ENST00000155840.12:c.743_744delinsGG MANE Select	ENSP00000155840.2:p.Trp248=
ENST00000335475.6:c.362_363delinsGG	ENSP00000334497.5:p.Trp121=
ENST00000646564.1:c.124-11363_124-11362delinsGG	ENSP00000495806.1:n.124-11363_124-11362delinsGG
ENST00000155840.9:c.743_744delinsGG	ENSP00000155840.2:p.Trp248=
ENST00000335475.5:c.362_363delinsGG	ENSP00000334497.5:p.Trp121=
ENST00000496887.6:c.482_483delinsGG	ENSP00000434560.1:p.Trp161=
NM_000218.2:c.743_744delinsGG , LRG_287t1:c.743_744delinsGG	NP_000209.2:p.Trp248=
NM_181798.1:c.362_363delinsGG , LRG_287t2:c.362_363delinsGG	NP_861463.1:p.Trp121=
NM_000218.3:c.743_744delinsGG MANE Select	NP_000209.2:p.Trp248=