Canonical Allele Identifier: CA121283

Gene: PQBP1

Linked Data

• ClinVar Variation Id: 10980
• ClinVar RCV Id: RCV000011727 ; RCV000254782 ; RCV000414864 ; RCV000623728 ; RCV000850214 ; RCV001420268
• dbSNP Id: rs606231193
• gnomAD v4: X-48902390-CAGAG-C
• MyVariant Identifiers: chrX:g.48759676_48759679del (hg19) ; chrX:g.48902399_48902402del (hg38)
• PubMed: PMID:9599645 ; PMID:11950858 ; PMID:13981686 ; PMID:14634649 ; PMID:15355434 ; PMID:15782410 ; PMID:15811016 ; PMID:16740914 ; PMID:20950397

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902399_48902402del , CM000685.2:g.48902399_48902402del	GRCh38
NC_000023.10:g.48759676_48759679del , CM000685.1:g.48759676_48759679del	GRCh37
NC_000023.9:g.48644620_48644623del	NCBI36
NG_015967.1:g.9482_9485del
NG_015968.2:g.756_759del
NG_034300.1:g.14565_14568del

Transcript Alleles

HGVS	Amino-acid change
ENST00000218224.9:c.459_462del	ENSP00000218224.4:p.Arg153SerfsTer?
ENST00000376563.6:c.459_462del	ENSP00000365747.1:p.Arg153SerfsTer?
ENST00000396763.6:c.459_462del	ENSP00000379985.1:p.Arg153SerfsTer?
ENST00000443648.6:c.459_462del	ENSP00000414861.2:p.Arg153SerfsTer?
ENST00000456306.2:c.-32-333_-32-330del	ENSP00000393013.2:n.-32-333_-32-330del
ENST00000472742.6:c.444+15_444+18del	ENSP00000509191.1:n.444+15_444+18del
ENST00000473764.6:n.1074_1077del
ENST00000474671.6:n.1268_1271del
ENST00000477997.6:n.1194_1197del
ENST00000486150.6:n.1368_1371del
ENST00000692023.1:c.*666_*669del	ENSP00000509927.1:n.*666_*669del
ENST00000447146.7:c.459_462del MANE Select	ENSP00000391759.2:p.Arg153SerfsTer?
ENST00000651767.1:c.459_462del	ENSP00000498362.1:p.Arg153SerfsTer?
ENST00000218224.8:c.459_462del	ENSP00000218224.4:p.Arg153SerfsTer?
ENST00000247140.8:c.293-333_293-330del	ENSP00000247140.4:n.293-333_293-330del
ENST00000376563.5:c.459_462del	ENSP00000365747.1:p.Arg153SerfsTer?
ENST00000376566.8:c.293-333_293-330del	ENSP00000365750.4:n.293-333_293-330del
ENST00000396763.5:c.459_462del	ENSP00000379985.1:p.Arg153SerfsTer?
ENST00000443648.5:c.459_462del	ENSP00000414861.1:p.Arg153SerfsTer?
ENST00000447146.6:c.459_462del	ENSP00000391759.2:p.Arg153SerfsTer?
ENST00000456306.1:c.259-333_259-330del
ENST00000463529.4:n.459_462del
ENST00000465859.2:n.473_476del
ENST00000470059.5:n.459_462del
ENST00000470062.5:n.549+15_549+18del
ENST00000472742.5:n.613+15_613+18del
ENST00000473764.5:n.1031_1034del
ENST00000474671.5:n.519_522del
ENST00000477997.5:n.540_543del
NM_001032381.1:c.459_462del	NP_001027553.1:p.Arg153SerfsTer?
NM_001032382.1:c.459_462del	NP_001027554.1:p.Arg153SerfsTer?
NM_001032383.1:c.459_462del	NP_001027555.1:p.Arg153SerfsTer?
NM_001032384.1:c.459_462del	NP_001027556.1:p.Arg153SerfsTer?
NM_001167989.1:c.459_462del	NP_001161461.1:p.Arg153SerfsTer?
NM_001167990.1:c.435_438del	NP_001161462.1:p.Arg145SerfsTer?
NM_001167992.1:c.202-43_202-40del	NP_001161464.1:n.202-43_202-40del
NM_005710.2:c.459_462del	NP_005701.1:p.Arg153SerfsTer?
NM_144495.2:c.293-333_293-330del	NP_652766.1:n.293-333_293-330del
XM_005272571.3:c.459_462del	XP_005272628.1:p.Arg153SerfsTer?
XM_005272572.3:c.293-333_293-330del	XP_005272629.1:n.293-333_293-330del
XM_011543884.1:c.459_462del	XP_011542186.1:p.Arg153SerfsTer?
XM_005272572.4:c.293-333_293-330del	XP_005272629.1:n.293-333_293-330del
XM_011543884.2:c.459_462del	XP_011542186.1:p.Arg153SerfsTer?
XM_017029207.1:c.459_462del	XP_016884696.1:p.Arg153SerfsTer?
NM_001032381.2:c.459_462del	NP_001027553.1:p.Arg153SerfsTer?
NM_001032382.2:c.459_462del MANE Select	NP_001027554.1:p.Arg153SerfsTer?
NM_001032383.2:c.459_462del	NP_001027555.1:p.Arg153SerfsTer?
NM_001167989.2:c.459_462del	NP_001161461.1:p.Arg153SerfsTer?
NM_001167990.2:c.435_438del	NP_001161462.1:p.Arg145SerfsTer?
NM_144495.3:c.293-333_293-330del	NP_652766.1:n.293-333_293-330del