Canonical Allele Identifier: CA1948242733

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572087_2572096delinsCCGTGGTCTT , CM000673.2:g.2572087_2572096delinsCCGTGGTCTT	GRCh38
NC_000011.9:g.2593317_2593326delinsCCGTGGTCTT , CM000673.1:g.2593317_2593326delinsCCGTGGTCTT	GRCh37
NC_000011.8:g.2549893_2549902delinsCCGTGGTCTT	NCBI36
NG_008935.1:g.132097_132106delinsCCGTGGTCTT , LRG_287:g.132097_132106delinsCCGTGGTCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.497_506delinsCCGTGGTCTT	ENSP00000434560.2:p.Ser166=
ENST00000646564.2:c.478-11348_478-11339delinsCCGTGGTCTT	ENSP00000495806.2:n.478-11348_478-11339de...
ENST00000155840.12:c.758_767delinsCCGTGGTCTT MANE Select	ENSP00000155840.2:p.Ser253=
ENST00000335475.6:c.377_386delinsCCGTGGTCTT	ENSP00000334497.5:p.Ser126=
ENST00000646564.1:c.124-11348_124-11339delinsCCGTGGTCTT	ENSP00000495806.1:n.124-11348_124-11339de...
ENST00000155840.9:c.758_767delinsCCGTGGTCTT	ENSP00000155840.2:p.Ser253=
ENST00000335475.5:c.377_386delinsCCGTGGTCTT	ENSP00000334497.5:p.Ser126=
ENST00000496887.6:c.497_506delinsCCGTGGTCTT	ENSP00000434560.1:p.Ser166=
NM_000218.2:c.758_767delinsCCGTGGTCTT , LRG_287t1:c.758_767delinsCCGTGGTCTT	NP_000209.2:p.Ser253=
NM_181798.1:c.377_386delinsCCGTGGTCTT , LRG_287t2:c.377_386delinsCCGTGGTCTT	NP_861463.1:p.Ser126=
NM_000218.3:c.758_767delinsCCGTGGTCTT MANE Select	NP_000209.2:p.Ser253=