Canonical Allele Identifier: CA658820763

Gene: PQBP1

Linked Data

• ClinVar Variation Id: 1691229
• ClinVar RCV Id: RCV002254145
• dbSNP Id: rs2147475642

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902515_48902516del , CM000685.2:g.48902515_48902516del	GRCh38
NC_000023.10:g.48759792_48759793del , CM000685.1:g.48759792_48759793del	GRCh37
NC_000023.9:g.48644736_48644737del	NCBI36
NG_015967.1:g.9598_9599del
NG_015968.2:g.634_635del
NG_034300.1:g.14443_14444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.575_576del	ENSP00000218224.4:p.Lys192SerfsTer7
ENST00000376563.6:c.575_576del	ENSP00000365747.1:p.Lys192SerfsTer7
ENST00000396763.6:c.575_576del	ENSP00000379985.1:p.Lys192SerfsTer7
ENST00000443648.6:c.575_576del	ENSP00000414861.2:p.Lys192SerfsTer7
ENST00000456306.2:c.-32-217_-32-216del	ENSP00000393013.2:n.-32-217_-32-216del
ENST00000472742.6:c.444+131_444+132del	ENSP00000509191.1:n.444+131_444+132del
ENST00000473764.6:n.1190_1191del
ENST00000474671.6:n.1384_1385del
ENST00000477997.6:n.1310_1311del
ENST00000486150.6:n.1484_1485del
ENST00000692023.1:c.*782_*783del	ENSP00000509927.1:n.*782_*783del
ENST00000447146.7:c.575_576del MANE Select	ENSP00000391759.2:p.Lys192SerfsTer7
ENST00000651767.1:c.575_576del	ENSP00000498362.1:p.Lys192SerfsTer7
ENST00000218224.8:c.575_576del	ENSP00000218224.4:p.Lys192SerfsTer7
ENST00000247140.8:c.293-217_293-216del	ENSP00000247140.4:n.293-217_293-216del
ENST00000376563.5:c.575_576del	ENSP00000365747.1:p.Lys192SerfsTer7
ENST00000376566.8:c.293-217_293-216del	ENSP00000365750.4:n.293-217_293-216del
ENST00000396763.5:c.575_576del	ENSP00000379985.1:p.Lys192SerfsTer7
ENST00000443648.5:c.575_576del	ENSP00000414861.1:p.Lys192SerfsTer7
ENST00000447146.6:c.575_576del	ENSP00000391759.2:p.Lys192SerfsTer7
ENST00000456306.1:c.259-217_259-216del
ENST00000463529.4:n.575_576del
ENST00000465859.2:n.589_590del
ENST00000470059.5:n.575_576del
ENST00000470062.5:n.549+131_549+132del
ENST00000472742.5:n.613+131_613+132del
ENST00000473764.5:n.1147_1148del
ENST00000474671.5:n.635_636del
ENST00000477997.5:n.656_657del
NM_001032381.1:c.575_576del	NP_001027553.1:p.Lys192SerfsTer7
NM_001032382.1:c.575_576del	NP_001027554.1:p.Lys192SerfsTer7
NM_001032383.1:c.575_576del	NP_001027555.1:p.Lys192SerfsTer7
NM_001032384.1:c.575_576del	NP_001027556.1:p.Lys192SerfsTer7
NM_001167989.1:c.575_576del	NP_001161461.1:p.Lys192SerfsTer6
NM_001167990.1:c.551_552del	NP_001161462.1:p.Lys184SerfsTer7
NM_001167992.1:c.275_276del	NP_001161464.1:p.Lys92SerfsTer7
NM_005710.2:c.575_576del	NP_005701.1:p.Lys192SerfsTer7
NM_144495.2:c.293-217_293-216del	NP_652766.1:n.293-217_293-216del
XM_005272571.3:c.575_576del	XP_005272628.1:p.Lys192SerfsTer6
XM_005272572.3:c.293-217_293-216del	XP_005272629.1:n.293-217_293-216del
XM_011543884.1:c.575_576del	XP_011542186.1:p.Lys192SerfsTer7
XM_005272572.4:c.293-217_293-216del	XP_005272629.1:n.293-217_293-216del
XM_011543884.2:c.575_576del	XP_011542186.1:p.Lys192SerfsTer7
XM_017029207.1:c.575_576del	XP_016884696.1:p.Lys192SerfsTer6
NM_001032381.2:c.575_576del	NP_001027553.1:p.Lys192SerfsTer7
NM_001032382.2:c.575_576del MANE Select	NP_001027554.1:p.Lys192SerfsTer7
NM_001032383.2:c.575_576del	NP_001027555.1:p.Lys192SerfsTer7
NM_001167989.2:c.575_576del	NP_001161461.1:p.Lys192SerfsTer6
NM_001167990.2:c.551_552del	NP_001161462.1:p.Lys184SerfsTer7
NM_144495.3:c.293-217_293-216del	NP_652766.1:n.293-217_293-216del