Canonical Allele Identifier: CA007001

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527944del , CM000673.2:g.2527944del	GRCh38
NC_000011.9:g.2549174del , CM000673.1:g.2549174del	GRCh37
NC_000011.8:g.2505750del	NCBI36
NG_008935.1:g.87954del , LRG_287:g.87954del

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.403del MANE Select	NP_000209.2:p.Val135SerfsTer?
ENST00000155840.12:c.403del MANE Select	ENSP00000155840.2:p.Val135SerfsTer?
NM_000218.2:c.403del , LRG_287t1:c.403del	NP_000209.2:p.Val135SerfsTer?
NM_181798.1:c.22del , LRG_287t2:c.22del	NP_861463.1:p.Val8SerfsTer?
ENST00000155840.9:c.403del	ENSP00000155840.2:p.Val135SerfsTer?
ENST00000335475.5:c.22del	ENSP00000334497.5:p.Val8SerfsTer?
ENST00000335475.6:c.22del	ENSP00000334497.5:p.Val8SerfsTer?
ENST00000345015.4:n.272del
ENST00000380776.4:c.193del	ENSP00000370153.4:p.Val65SerfsTer?
ENST00000380776.5:n.200del
ENST00000496887.6:c.142del	ENSP00000434560.1:p.Val48SerfsTer?
ENST00000496887.7:c.142del	ENSP00000434560.2:p.Val48SerfsTer?
ENST00000646564.1:c.49del	ENSP00000495806.1:p.Val17SerfsTer?
ENST00000646564.2:c.403del	ENSP00000495806.2:p.Val135SerfsTer?