Canonical Allele Identifier: CA2695213154

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572868del , CM000673.2:g.2572868del	GRCh38
NC_000011.9:g.2594098del , CM000673.1:g.2594098del	GRCh37
NC_000011.8:g.2550674del	NCBI36
NG_008935.1:g.132878del , LRG_287:g.132878del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.542del	ENSP00000434560.2:p.Ile181ThrfsTer21
ENST00000646564.2:c.478-10567del	ENSP00000495806.2:n.478-10567del
ENST00000155840.12:c.803del MANE Select	ENSP00000155840.2:p.Ile268ThrfsTer21
ENST00000335475.6:c.422del	ENSP00000334497.5:p.Ile141ThrfsTer21
ENST00000646564.1:c.124-10567del	ENSP00000495806.1:n.124-10567del
ENST00000155840.9:c.803del	ENSP00000155840.2:p.Ile268ThrfsTer21
ENST00000335475.5:c.422del	ENSP00000334497.5:p.Ile141ThrfsTer21
ENST00000496887.6:c.542del	ENSP00000434560.1:p.Ile181ThrfsTer?
NM_000218.2:c.803del , LRG_287t1:c.803del	NP_000209.2:p.Ile268ThrfsTer21
NM_181798.1:c.422del , LRG_287t2:c.422del	NP_861463.1:p.Ile141ThrfsTer21
NM_000218.3:c.803del MANE Select	NP_000209.2:p.Ile268ThrfsTer21