Canonical Allele Identifier: CA2428427933

Gene: PQBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902483_48902506delinsGGAGGAGCTGGCTCCCTATCCCAA , CM000685.2:g.48902483_48902506delinsGGAGGAGCTGGCTCCCTATCCCAA	GRCh38
NC_000023.10:g.48759760_48759783delinsGGAGGAGCTGGCTCCCTATCCCAA , CM000685.1:g.48759760_48759783delinsGGAGGAGCTGGCTCCCTATCCCAA	GRCh37
NC_000023.9:g.48644704_48644727delinsGGAGGAGCTGGCTCCCTATCCCAA	NCBI36
NG_015967.1:g.9566_9589delinsGGAGGAGCTGGCTCCCTATCCCAA
NG_015968.2:g.644_667delinsTTGGGATAGGGAGCCAGCTCCTCC
NG_034300.1:g.14453_14476delinsTTGGGATAGGGAGCCAGCTCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000218224.4:p.Arg181=
ENST00000376563.6:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000365747.1:p.Arg181=
ENST00000396763.6:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000379985.1:p.Arg181=
ENST00000443648.6:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000414861.2:p.Arg181=
ENST00000456306.2:c.-32-249_-32-226delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000393013.2:n.-32-249_-32-226delinsGGAGGAGCTGGCTCCCTATC...
ENST00000472742.6:c.444+99_444+122delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000509191.1:n.444+99_444+122delinsGGAGGAGCTGGCTCCCTATCC...
ENST00000473764.6:n.1158_1181delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000474671.6:n.1352_1375delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000477997.6:n.1278_1301delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000486150.6:n.1452_1475delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000692023.1:c.*750_*773delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000509927.1:n.*750_*773delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000447146.7:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA MANE Select	ENSP00000391759.2:p.Arg181=
ENST00000651767.1:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000498362.1:p.Arg181=
ENST00000218224.8:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000218224.4:p.Arg181=
ENST00000247140.8:c.293-249_293-226delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000247140.4:n.293-249_293-226delinsGGAGGAGCTGGCTCCCTATC...
ENST00000376563.5:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000365747.1:p.Arg181=
ENST00000376566.8:c.293-249_293-226delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000365750.4:n.293-249_293-226delinsGGAGGAGCTGGCTCCCTATC...
ENST00000396763.5:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000379985.1:p.Arg181=
ENST00000443648.5:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000414861.1:p.Arg181=
ENST00000447146.6:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	ENSP00000391759.2:p.Arg181=
ENST00000456306.1:c.259-249_259-226delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000463529.4:n.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000465859.2:n.557_580delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000470059.5:n.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000470062.5:n.549+99_549+122delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000472742.5:n.613+99_613+122delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000473764.5:n.1115_1138delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000474671.5:n.603_626delinsGGAGGAGCTGGCTCCCTATCCCAA
ENST00000477997.5:n.624_647delinsGGAGGAGCTGGCTCCCTATCCCAA
NM_001032381.1:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_001027553.1:p.Arg181=
NM_001032382.1:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_001027554.1:p.Arg181=
NM_001032383.1:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_001027555.1:p.Arg181=
NM_001032384.1:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_001027556.1:p.Arg181=
NM_001167989.1:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_001161461.1:p.Arg181=
NM_001167990.1:c.519_542delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_001161462.1:p.Arg173=
NM_001167992.1:c.243_266delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_001161464.1:p.Arg81=
NM_005710.2:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_005701.1:p.Arg181=
NM_144495.2:c.293-249_293-226delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_652766.1:n.293-249_293-226delinsGGAGGAGCTGGCTCCCTATCCCAA
XM_005272571.3:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	XP_005272628.1:p.Arg181=
XM_005272572.3:c.293-249_293-226delinsGGAGGAGCTGGCTCCCTATCCCAA	XP_005272629.1:n.293-249_293-226delinsGGAGGAGCTGGCTCCCTATCCCA...
XM_011543884.1:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	XP_011542186.1:p.Arg181=
XM_005272572.4:c.293-249_293-226delinsGGAGGAGCTGGCTCCCTATCCCAA	XP_005272629.1:n.293-249_293-226delinsGGAGGAGCTGGCTCCCTATCCCA...
XM_011543884.2:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	XP_011542186.1:p.Arg181=
XM_017029207.1:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	XP_016884696.1:p.Arg181=
NM_001032381.2:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_001027553.1:p.Arg181=
NM_001032382.2:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA MANE Select	NP_001027554.1:p.Arg181=
NM_001032383.2:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_001027555.1:p.Arg181=
NM_001167989.2:c.543_566delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_001161461.1:p.Arg181=
NM_001167990.2:c.519_542delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_001161462.1:p.Arg173=
NM_144495.3:c.293-249_293-226delinsGGAGGAGCTGGCTCCCTATCCCAA	NP_652766.1:n.293-249_293-226delinsGGAGGAGCTGGCTCCCTATCCCAA