Canonical Allele Identifier: CA658761336

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572056del , CM000673.2:g.2572056del	GRCh38
NC_000011.9:g.2593286del , CM000673.1:g.2593286del	GRCh37
NC_000011.8:g.2549862del	NCBI36
NG_008935.1:g.132066del , LRG_287:g.132066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.466del	ENSP00000434560.2:p.Arg156AlafsTer20
ENST00000646564.2:c.478-11379del	ENSP00000495806.2:n.478-11379del
ENST00000155840.12:c.727del MANE Select	ENSP00000155840.2:p.Arg243AlafsTer20
ENST00000335475.6:c.346del	ENSP00000334497.5:p.Arg116AlafsTer20
ENST00000646564.1:c.124-11379del	ENSP00000495806.1:n.124-11379del
ENST00000155840.9:c.727del	ENSP00000155840.2:p.Arg243AlafsTer20
ENST00000335475.5:c.346del	ENSP00000334497.5:p.Arg116AlafsTer20
ENST00000496887.6:c.466del	ENSP00000434560.1:p.Arg156AlafsTer20
NM_000218.2:c.727del , LRG_287t1:c.727del	NP_000209.2:p.Arg243AlafsTer20
NM_181798.1:c.346del , LRG_287t2:c.346del	NP_861463.1:p.Arg116AlafsTer20
NM_000218.3:c.727del MANE Select	NP_000209.2:p.Arg243AlafsTer20