Canonical Allele Identifier: CA2950809866

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583462del , CM000673.2:g.2583462del	GRCh38
NC_000011.9:g.2604692del , CM000673.1:g.2604692del	GRCh37
NC_000011.8:g.2561268del	NCBI36
NG_008935.1:g.143472del , LRG_287:g.143472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.688del	ENSP00000434560.2:p.Asp230ThrfsTer?
ENST00000646564.2:c.505del	ENSP00000495806.2:p.Asp169ThrfsTer?
ENST00000155840.12:c.949del MANE Select	ENSP00000155840.2:p.Asp317ThrfsTer?
ENST00000335475.6:c.568del	ENSP00000334497.5:p.Asp190ThrfsTer?
ENST00000646564.1:c.151del	ENSP00000495806.1:p.Asp51ThrfsTer?
ENST00000155840.9:c.949del	ENSP00000155840.2:p.Asp317ThrfsTer?
ENST00000335475.5:c.568del	ENSP00000334497.5:p.Asp190ThrfsTer?
NM_000218.2:c.949del , LRG_287t1:c.949del	NP_000209.2:p.Asp317ThrfsTer?
NM_181798.1:c.568del , LRG_287t2:c.568del	NP_861463.1:p.Asp190ThrfsTer?
NM_000218.3:c.949del MANE Select	NP_000209.2:p.Asp317ThrfsTer?