Canonical Allele Identifier: CA2513287202

Gene: PQBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902794del , CM000685.2:g.48902794del	GRCh38
NC_000023.10:g.48760071del , CM000685.1:g.48760071del	GRCh37
NC_000023.9:g.48645015del	NCBI36
NG_015967.1:g.9877del
NG_015968.2:g.361del
NG_034300.1:g.14170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.640del	ENSP00000218224.4:p.Arg214GlyfsTer?
ENST00000376563.6:c.640del	ENSP00000365747.1:p.Arg214GlyfsTer?
ENST00000396763.6:c.640del	ENSP00000379985.1:p.Arg214GlyfsTer?
ENST00000443648.6:c.640del	ENSP00000414861.2:p.Arg214GlyfsTer?
ENST00000456306.2:c.31del	ENSP00000393013.2:p.Arg11GlyfsTer?
ENST00000472742.6:c.*57del	ENSP00000509191.1:n.*57del
ENST00000473764.6:n.1469del
ENST00000474671.6:n.1663del
ENST00000477997.6:n.1589del
ENST00000486150.6:n.1763del
ENST00000692023.1:c.*1061del	ENSP00000509927.1:n.*1061del
ENST00000447146.7:c.640del MANE Select	ENSP00000391759.2:p.Arg214GlyfsTer?
ENST00000651767.1:c.640del	ENSP00000498362.1:p.Arg214GlyfsTer?
ENST00000218224.8:c.640del	ENSP00000218224.4:p.Arg214GlyfsTer?
ENST00000247140.8:c.355del	ENSP00000247140.4:p.Arg119GlyfsTer?
ENST00000376563.5:c.640del	ENSP00000365747.1:p.Arg214GlyfsTer?
ENST00000376566.8:c.355del	ENSP00000365750.4:p.Arg119GlyfsTer?
ENST00000396763.5:c.640del	ENSP00000379985.1:p.Arg214GlyfsTer?
ENST00000447146.6:c.640del	ENSP00000391759.2:p.Arg214GlyfsTer?
ENST00000456306.1:c.321del
ENST00000463529.4:n.854del
ENST00000465859.2:n.654del
ENST00000470059.5:n.854del
ENST00000470062.5:n.612del
ENST00000473764.5:n.1212del
ENST00000474671.5:n.700del
ENST00000477997.5:n.721del
NM_001032381.1:c.640del	NP_001027553.1:p.Arg214GlyfsTer?
NM_001032382.1:c.640del	NP_001027554.1:p.Arg214GlyfsTer?
NM_001032383.1:c.640del	NP_001027555.1:p.Arg214GlyfsTer?
NM_001032384.1:c.640del	NP_001027556.1:p.Arg214GlyfsTer?
NM_001167989.1:c.637del	NP_001161461.1:p.Arg213GlyfsTer?
NM_001167990.1:c.616del	NP_001161462.1:p.Arg206GlyfsTer?
NM_001167992.1:c.340del	NP_001161464.1:p.Arg114GlyfsTer?
NM_005710.2:c.640del	NP_005701.1:p.Arg214GlyfsTer?
NM_144495.2:c.355del	NP_652766.1:p.Arg119GlyfsTer?
XM_005272571.3:c.637del	XP_005272628.1:p.Arg213GlyfsTer?
XM_005272572.3:c.355del	XP_005272629.1:p.Arg119GlyfsTer?
XM_011543884.1:c.640del	XP_011542186.1:p.Arg214GlyfsTer?
XM_005272572.4:c.355del	XP_005272629.1:p.Arg119GlyfsTer?
XM_011543884.2:c.640del	XP_011542186.1:p.Arg214GlyfsTer?
XM_017029207.1:c.637del	XP_016884696.1:p.Arg213GlyfsTer?
NM_001032381.2:c.640del	NP_001027553.1:p.Arg214GlyfsTer?
NM_001032382.2:c.640del MANE Select	NP_001027554.1:p.Arg214GlyfsTer?
NM_001032383.2:c.640del	NP_001027555.1:p.Arg214GlyfsTer?
NM_001167989.2:c.637del	NP_001161461.1:p.Arg213GlyfsTer?
NM_001167990.2:c.616del	NP_001161462.1:p.Arg206GlyfsTer?
NM_144495.3:c.355del	NP_652766.1:p.Arg119GlyfsTer?