Canonical Allele Identifier: CA2695233834

Gene: PQBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902784dup , CM000685.2:g.48902784dup	GRCh38
NC_000023.10:g.48760061dup , CM000685.1:g.48760061dup	GRCh37
NC_000023.9:g.48645005dup	NCBI36
NG_015967.1:g.9867dup
NG_015968.2:g.366dup
NG_034300.1:g.14175dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.630dup	ENSP00000218224.4:p.Asp211ArgfsTer16
ENST00000376563.6:c.630dup	ENSP00000365747.1:p.Asp211ArgfsTer16
ENST00000396763.6:c.630dup	ENSP00000379985.1:p.Asp211ArgfsTer16
ENST00000443648.6:c.630dup	ENSP00000414861.2:p.Asp211ArgfsTer16
ENST00000456306.2:c.21dup	ENSP00000393013.2:p.Asp8ArgfsTer16
ENST00000472742.6:c.*47dup	ENSP00000509191.1:n.*47dup
ENST00000473764.6:n.1459dup
ENST00000474671.6:n.1653dup
ENST00000477997.6:n.1579dup
ENST00000486150.6:n.1753dup
ENST00000692023.1:c.*1051dup	ENSP00000509927.1:n.*1051dup
ENST00000447146.7:c.630dup MANE Select	ENSP00000391759.2:p.Asp211ArgfsTer16
ENST00000651767.1:c.630dup	ENSP00000498362.1:p.Asp211ArgfsTer16
ENST00000218224.8:c.630dup	ENSP00000218224.4:p.Asp211ArgfsTer16
ENST00000247140.8:c.345dup	ENSP00000247140.4:p.Asp116ArgfsTer16
ENST00000376563.5:c.630dup	ENSP00000365747.1:p.Asp211ArgfsTer16
ENST00000376566.8:c.345dup	ENSP00000365750.4:p.Asp116ArgfsTer16
ENST00000396763.5:c.630dup	ENSP00000379985.1:p.Asp211ArgfsTer16
ENST00000443648.5:c.630dup	ENSP00000414861.1:p.Asp211ArgfsTer?
ENST00000447146.6:c.630dup	ENSP00000391759.2:p.Asp211ArgfsTer16
ENST00000456306.1:c.311dup
ENST00000463529.4:n.844dup
ENST00000465859.2:n.644dup
ENST00000470059.5:n.844dup
ENST00000470062.5:n.602dup
ENST00000472742.5:n.666dup
ENST00000473764.5:n.1202dup
ENST00000474671.5:n.690dup
ENST00000477997.5:n.711dup
NM_001032381.1:c.630dup	NP_001027553.1:p.Asp211ArgfsTer16
NM_001032382.1:c.630dup	NP_001027554.1:p.Asp211ArgfsTer16
NM_001032383.1:c.630dup	NP_001027555.1:p.Asp211ArgfsTer16
NM_001032384.1:c.630dup	NP_001027556.1:p.Asp211ArgfsTer16
NM_001167989.1:c.627dup	NP_001161461.1:p.Asp210ArgfsTer16
NM_001167990.1:c.606dup	NP_001161462.1:p.Asp203ArgfsTer16
NM_001167992.1:c.330dup	NP_001161464.1:p.Asp111ArgfsTer16
NM_005710.2:c.630dup	NP_005701.1:p.Asp211ArgfsTer16
NM_144495.2:c.345dup	NP_652766.1:p.Asp116ArgfsTer16
XM_005272571.3:c.627dup	XP_005272628.1:p.Asp210ArgfsTer16
XM_005272572.3:c.345dup	XP_005272629.1:p.Asp116ArgfsTer16
XM_011543884.1:c.630dup	XP_011542186.1:p.Asp211ArgfsTer16
XM_005272572.4:c.345dup	XP_005272629.1:p.Asp116ArgfsTer16
XM_011543884.2:c.630dup	XP_011542186.1:p.Asp211ArgfsTer16
XM_017029207.1:c.627dup	XP_016884696.1:p.Asp210ArgfsTer16
NM_001032381.2:c.630dup	NP_001027553.1:p.Asp211ArgfsTer16
NM_001032382.2:c.630dup MANE Select	NP_001027554.1:p.Asp211ArgfsTer16
NM_001032383.2:c.630dup	NP_001027555.1:p.Asp211ArgfsTer16
NM_001167989.2:c.627dup	NP_001161461.1:p.Asp210ArgfsTer16
NM_001167990.2:c.606dup	NP_001161462.1:p.Asp203ArgfsTer16
NM_144495.3:c.345dup	NP_652766.1:p.Asp116ArgfsTer16