Canonical Allele Identifier: CA2695213157

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572885_2572895del , CM000673.2:g.2572885_2572895del	GRCh38
NC_000011.9:g.2594115_2594125del , CM000673.1:g.2594115_2594125del	GRCh37
NC_000011.8:g.2550691_2550701del	NCBI36
NG_008935.1:g.132895_132905del , LRG_287:g.132895_132905del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.559_569del	ENSP00000434560.2:p.Ile187ValfsTer7
ENST00000646564.2:c.478-10550_478-10540del	ENSP00000495806.2:n.478-10550_478-10540de...
ENST00000155840.12:c.820_830del MANE Select	ENSP00000155840.2:p.Ile274ValfsTer7
ENST00000335475.6:c.439_449del	ENSP00000334497.5:p.Ile147ValfsTer7
ENST00000646564.1:c.124-10550_124-10540del	ENSP00000495806.1:n.124-10550_124-10540de...
ENST00000155840.9:c.820_830del	ENSP00000155840.2:p.Ile274ValfsTer7
ENST00000335475.5:c.439_449del	ENSP00000334497.5:p.Ile147ValfsTer7
ENST00000496887.6:c.559_569del	ENSP00000434560.1:p.Ile187ValfsTer?
NM_000218.2:c.820_830del , LRG_287t1:c.820_830del	NP_000209.2:p.Ile274ValfsTer7
NM_181798.1:c.439_449del , LRG_287t2:c.439_449del	NP_861463.1:p.Ile147ValfsTer7
NM_000218.3:c.820_830del MANE Select	NP_000209.2:p.Ile274ValfsTer7