Canonical Allele Identifier: CA658761316

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445371_2445397delinsGG , CM000673.2:g.2445371_2445397delinsGG	GRCh38
NC_000011.9:g.2466601_2466627delinsGG , CM000673.1:g.2466601_2466627delinsGG	GRCh37
NC_000011.8:g.2423177_2423203delinsGG	NCBI36
NG_008935.1:g.5381_5407delinsGG , LRG_287:g.5381_5407delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-12_38delinsGG
ENST00000646564.2:c.273_299delinsGG	ENSP00000495806.2:p.Ser92GlyfsTer?
ENST00000155840.12:c.273_299delinsGG MANE Select	ENSP00000155840.2:p.Ser92GlyfsTer?
ENST00000155840.9:c.273_299delinsGG	ENSP00000155840.2:p.Ser92GlyfsTer?
ENST00000345015.4:n.50_76delinsGG
ENST00000496887.6:c.24-12_38delinsGG
NM_000218.2:c.273_299delinsGG , LRG_287t1:c.273_299delinsGG	NP_000209.2:p.Ser92GlyfsTer?
NM_000218.3:c.273_299delinsGG MANE Select	NP_000209.2:p.Ser92GlyfsTer?