Canonical Allele Identifier: CA16621421
Gene: PQBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423131
ClinVar RCV Id: RCV000480353
dbSNP Id: rs1064796253

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48902777_48902778del , CM000685.2:g.48902777_48902778del GRCh38
NC_000023.10:g.48760054_48760055del , CM000685.1:g.48760054_48760055del GRCh37
NC_000023.9:g.48644998_48644999del NCBI36
NG_015967.1:g.9860_9861del
NG_015968.2:g.372_373del
NG_034300.1:g.14181_14182del

Transcript Alleles

HGVS Amino-acid change
ENST00000218224.9:c.623_624del ENSP00000218224.4:p.Ser208LeufsTer18
ENST00000376563.6:c.623_624del ENSP00000365747.1:p.Ser208LeufsTer18
ENST00000396763.6:c.623_624del ENSP00000379985.1:p.Ser208LeufsTer18
ENST00000443648.6:c.623_624del ENSP00000414861.2:p.Ser208LeufsTer18
ENST00000456306.2:c.14_15del ENSP00000393013.2:p.Ser5LeufsTer18
ENST00000472742.6:c.*40_*41del ENSP00000509191.1:n.*40_*41del
ENST00000473764.6:n.1452_1453del
ENST00000474671.6:n.1646_1647del
ENST00000477997.6:n.1572_1573del
ENST00000486150.6:n.1746_1747del
ENST00000692023.1:c.*1044_*1045del ENSP00000509927.1:n.*1044_*1045del
ENST00000447146.7:c.623_624del MANE Select ENSP00000391759.2:p.Ser208LeufsTer18
ENST00000651767.1:c.623_624del ENSP00000498362.1:p.Ser208LeufsTer18
ENST00000218224.8:c.623_624del ENSP00000218224.4:p.Ser208LeufsTer18
ENST00000247140.8:c.338_339del ENSP00000247140.4:p.Ser113LeufsTer18
ENST00000376563.5:c.623_624del ENSP00000365747.1:p.Ser208LeufsTer18
ENST00000376566.8:c.338_339del ENSP00000365750.4:p.Ser113LeufsTer18
ENST00000396763.5:c.623_624del ENSP00000379985.1:p.Ser208LeufsTer18
ENST00000443648.5:c.623_624del ENSP00000414861.1:p.Ser208LeufsTer?
ENST00000447146.6:c.623_624del ENSP00000391759.2:p.Ser208LeufsTer18
ENST00000456306.1:c.304_305del
ENST00000463529.4:n.837_838del
ENST00000465859.2:n.637_638del
ENST00000470059.5:n.837_838del
ENST00000470062.5:n.595_596del
ENST00000472742.5:n.659_660del
ENST00000473764.5:n.1195_1196del
ENST00000474671.5:n.683_684del
ENST00000477997.5:n.704_705del
NM_001032381.1:c.623_624del NP_001027553.1:p.Ser208LeufsTer18
NM_001032382.1:c.623_624del NP_001027554.1:p.Ser208LeufsTer18
NM_001032383.1:c.623_624del NP_001027555.1:p.Ser208LeufsTer18
NM_001032384.1:c.623_624del NP_001027556.1:p.Ser208LeufsTer18
NM_001167989.1:c.620_621del NP_001161461.1:p.Ser207LeufsTer18
NM_001167990.1:c.599_600del NP_001161462.1:p.Ser200LeufsTer18
NM_001167992.1:c.323_324del NP_001161464.1:p.Ser108LeufsTer18
NM_005710.2:c.623_624del NP_005701.1:p.Ser208LeufsTer18
NM_144495.2:c.338_339del NP_652766.1:p.Ser113LeufsTer18
XM_005272571.3:c.620_621del XP_005272628.1:p.Ser207LeufsTer18
XM_005272572.3:c.338_339del XP_005272629.1:p.Ser113LeufsTer18
XM_011543884.1:c.623_624del XP_011542186.1:p.Ser208LeufsTer18
XM_005272572.4:c.338_339del XP_005272629.1:p.Ser113LeufsTer18
XM_011543884.2:c.623_624del XP_011542186.1:p.Ser208LeufsTer18
XM_017029207.1:c.620_621del XP_016884696.1:p.Ser207LeufsTer18
NM_001032381.2:c.623_624del NP_001027553.1:p.Ser208LeufsTer18
NM_001032382.2:c.623_624del MANE Select NP_001027554.1:p.Ser208LeufsTer18
NM_001032383.2:c.623_624del NP_001027555.1:p.Ser208LeufsTer18
NM_001167989.2:c.620_621del NP_001161461.1:p.Ser207LeufsTer18
NM_001167990.2:c.599_600del NP_001161462.1:p.Ser200LeufsTer18
NM_144495.3:c.338_339del NP_652766.1:p.Ser113LeufsTer18