Canonical Allele Identifier: CA16621424
Gene: PQBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422285
ClinVar RCV Id: RCV000483388
dbSNP Id: rs1064795683

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48903024_48903028del , CM000685.2:g.48903024_48903028del GRCh38
NC_000023.10:g.48760301_48760305del , CM000685.1:g.48760301_48760305del GRCh37
NC_000023.9:g.48645245_48645249del NCBI36
NG_015967.1:g.10107_10111del
NG_015968.2:g.124_128del
NG_034300.1:g.13933_13937del

Transcript Alleles

HGVS Amino-acid change
ENST00000218224.9:c.738_742del ENSP00000218224.4:p.Ser247ArgfsTer?
ENST00000376563.6:c.738_742del ENSP00000365747.1:p.Ser247ArgfsTer?
ENST00000396763.6:c.738_742del ENSP00000379985.1:p.Ser247ArgfsTer?
ENST00000443648.6:c.738_742del ENSP00000414861.2:p.Ser247ArgfsTer?
ENST00000456306.2:c.129_133del ENSP00000393013.2:p.Ser44ArgfsTer?
ENST00000472742.6:c.*155_*159del ENSP00000509191.1:n.*155_*159del
ENST00000474671.6:n.1893_1897del
ENST00000477997.6:n.1687_1691del
ENST00000486150.6:n.1993_1997del
ENST00000692023.1:c.*1159_*1163del ENSP00000509927.1:n.*1159_*1163del
ENST00000447146.7:c.738_742del MANE Select ENSP00000391759.2:p.Ser247ArgfsTer?
ENST00000651767.1:c.738_742del ENSP00000498362.1:p.Ser247ArgfsTer?
ENST00000218224.8:c.738_742del ENSP00000218224.4:p.Ser247ArgfsTer?
ENST00000247140.8:c.453_457del ENSP00000247140.4:p.Ser152ArgfsTer?
ENST00000376563.5:c.738_742del ENSP00000365747.1:p.Ser247ArgfsTer?
ENST00000376566.8:c.453_457del ENSP00000365750.4:p.Ser152ArgfsTer?
ENST00000396763.5:c.738_742del ENSP00000379985.1:p.Ser247ArgfsTer?
ENST00000447146.6:c.738_742del ENSP00000391759.2:p.Ser247ArgfsTer?
ENST00000456306.1:c.419_423del
ENST00000463529.4:n.1084_1088del
ENST00000465859.2:n.752_756del
ENST00000470059.5:n.952_956del
ENST00000470062.5:n.710_714del
ENST00000473764.5:n.1310_1314del
ENST00000474671.5:n.798_802del
ENST00000477997.5:n.819_823del
NM_001032381.1:c.738_742del NP_001027553.1:p.Ser247ArgfsTer?
NM_001032382.1:c.738_742del NP_001027554.1:p.Ser247ArgfsTer?
NM_001032383.1:c.738_742del NP_001027555.1:p.Ser247ArgfsTer?
NM_001032384.1:c.738_742del NP_001027556.1:p.Ser247ArgfsTer?
NM_001167989.1:c.735_739del NP_001161461.1:p.Ser246ArgfsTer?
NM_001167990.1:c.714_718del NP_001161462.1:p.Ser239ArgfsTer?
NM_001167992.1:c.438_442del NP_001161464.1:p.Ser147ArgfsTer?
NM_005710.2:c.738_742del NP_005701.1:p.Ser247ArgfsTer?
NM_144495.2:c.453_457del NP_652766.1:p.Ser152ArgfsTer?
XM_005272571.3:c.735_739del XP_005272628.1:p.Ser246ArgfsTer?
XM_005272572.3:c.453_457del XP_005272629.1:p.Ser152ArgfsTer?
XM_011543884.1:c.738_742del XP_011542186.1:p.Ser247ArgfsTer?
XM_005272572.4:c.453_457del XP_005272629.1:p.Ser152ArgfsTer?
XM_011543884.2:c.738_742del XP_011542186.1:p.Ser247ArgfsTer?
XM_017029207.1:c.735_739del XP_016884696.1:p.Ser246ArgfsTer?
NM_001032381.2:c.738_742del NP_001027553.1:p.Ser247ArgfsTer?
NM_001032382.2:c.738_742del MANE Select NP_001027554.1:p.Ser247ArgfsTer?
NM_001032383.2:c.738_742del NP_001027555.1:p.Ser247ArgfsTer?
NM_001167989.2:c.735_739del NP_001161461.1:p.Ser246ArgfsTer?
NM_001167990.2:c.714_718del NP_001161462.1:p.Ser239ArgfsTer?
NM_144495.3:c.453_457del NP_652766.1:p.Ser152ArgfsTer?