Canonical Allele Identifier: CA2695213156

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572874_2572877del , CM000673.2:g.2572874_2572877del	GRCh38
NC_000011.9:g.2594104_2594107del , CM000673.1:g.2594104_2594107del	GRCh37
NC_000011.8:g.2550680_2550683del	NCBI36
NG_008935.1:g.132884_132887del , LRG_287:g.132884_132887del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.548_551del	ENSP00000434560.2:p.Phe183TrpfsTer18
ENST00000646564.2:c.478-10561_478-10558del	ENSP00000495806.2:n.478-10561_478-10558de...
ENST00000155840.12:c.809_812del MANE Select	ENSP00000155840.2:p.Phe270TrpfsTer18
ENST00000335475.6:c.428_431del	ENSP00000334497.5:p.Phe143TrpfsTer18
ENST00000646564.1:c.124-10561_124-10558del	ENSP00000495806.1:n.124-10561_124-10558de...
ENST00000155840.9:c.809_812del	ENSP00000155840.2:p.Phe270TrpfsTer18
ENST00000335475.5:c.428_431del	ENSP00000334497.5:p.Phe143TrpfsTer18
ENST00000496887.6:c.548_551del	ENSP00000434560.1:p.Phe183TrpfsTer?
NM_000218.2:c.809_812del , LRG_287t1:c.809_812del	NP_000209.2:p.Phe270TrpfsTer18
NM_181798.1:c.428_431del , LRG_287t2:c.428_431del	NP_861463.1:p.Phe143TrpfsTer18
NM_000218.3:c.809_812del MANE Select	NP_000209.2:p.Phe270TrpfsTer18