Canonical Allele Identifier: CA658761332

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662029del , CM000673.2:g.2662029del	GRCh38
NC_000011.9:g.2683259del , CM000673.1:g.2683259del	GRCh37
NC_000011.8:g.2639835del	NCBI36
NG_008935.1:g.222039del , LRG_287:g.222039del
NG_016178.2:g.42971del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1105del (KCNQ1)	ENSP00000434560.2:p.Asp369ThrfsTer10
ENST00000646564.2:c.922del (KCNQ1)	ENSP00000495806.2:p.Asp308ThrfsTer10
ENST00000155840.12:c.1462del (KCNQ1) MANE Select	ENSP00000155840.2:p.Asp488ThrfsTer10
ENST00000335475.6:c.1081del (KCNQ1)	ENSP00000334497.5:p.Asp361ThrfsTer10
ENST00000646564.1:c.568del (KCNQ1)	ENSP00000495806.1:p.Asp190ThrfsTer10
ENST00000155840.9:c.1462del (KCNQ1)	ENSP00000155840.2:p.Asp488ThrfsTer10
ENST00000335475.5:c.1081del (KCNQ1)	ENSP00000334497.5:p.Asp361ThrfsTer10
NM_000218.2:c.1462del , LRG_287t1:c.1462del (KCNQ1)	NP_000209.2:p.Asp488ThrfsTer10
NM_181798.1:c.1081del , LRG_287t2:c.1081del (KCNQ1)	NP_861463.1:p.Asp361ThrfsTer10
NR_002728.3:n.37971del (KCNQ1OT1)
NM_000218.3:c.1462del (KCNQ1) MANE Select	NP_000209.2:p.Asp488ThrfsTer10