Canonical Allele Identifier: CA2825002947

Gene: PQBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902316_48902317del , CM000685.2:g.48902316_48902317del	GRCh38
NC_000023.10:g.48759593_48759594del , CM000685.1:g.48759593_48759594del	GRCh37
NC_000023.9:g.48644537_48644538del	NCBI36
NG_015967.1:g.9399_9400del
NG_015968.2:g.833_834del
NG_034300.1:g.14642_14643del

Transcript Alleles

HGVS	Amino-acid Change
NM_001032382.2:c.376_377del MANE Select	NP_001027554.1:p.Arg126GlyfsTer13
ENST00000447146.7:c.376_377del MANE Select	ENSP00000391759.2:p.Arg126GlyfsTer13
NM_001032381.1:c.376_377del	NP_001027553.1:p.Arg126GlyfsTer13
NM_001032381.2:c.376_377del	NP_001027553.1:p.Arg126GlyfsTer13
NM_001032382.1:c.376_377del	NP_001027554.1:p.Arg126GlyfsTer13
NM_001032383.1:c.376_377del	NP_001027555.1:p.Arg126GlyfsTer13
NM_001032383.2:c.376_377del	NP_001027555.1:p.Arg126GlyfsTer13
NM_001032384.1:c.376_377del	NP_001027556.1:p.Arg126GlyfsTer13
NM_001167989.1:c.376_377del	NP_001161461.1:p.Arg126GlyfsTer13
NM_001167989.2:c.376_377del	NP_001161461.1:p.Arg126GlyfsTer13
NM_001167990.1:c.352_353del	NP_001161462.1:p.Arg118GlyfsTer13
NM_001167990.2:c.352_353del	NP_001161462.1:p.Arg118GlyfsTer13
NM_001167992.1:c.202-126_202-125del	NP_001161464.1:n.202-126_202-125del
NM_005710.2:c.376_377del	NP_005701.1:p.Arg126GlyfsTer13
NM_144495.2:c.292+274_292+275del	NP_652766.1:n.292+274_292+275del
NM_144495.3:c.292+274_292+275del	NP_652766.1:n.292+274_292+275del
ENST00000218224.8:c.376_377del	ENSP00000218224.4:p.Arg126GlyfsTer13
ENST00000218224.9:c.376_377del	ENSP00000218224.4:p.Arg126GlyfsTer13
ENST00000247140.8:c.292+274_292+275del	ENSP00000247140.4:n.292+274_292+275del
ENST00000376563.5:c.376_377del	ENSP00000365747.1:p.Arg126GlyfsTer13
ENST00000376563.6:c.376_377del	ENSP00000365747.1:p.Arg126GlyfsTer13
ENST00000376566.8:c.292+274_292+275del	ENSP00000365750.4:n.292+274_292+275del
ENST00000396763.5:c.376_377del	ENSP00000379985.1:p.Arg126GlyfsTer13
ENST00000396763.6:c.376_377del	ENSP00000379985.1:p.Arg126GlyfsTer13
ENST00000443648.5:c.376_377del	ENSP00000414861.1:p.Arg126GlyfsTer13
ENST00000443648.6:c.376_377del	ENSP00000414861.2:p.Arg126GlyfsTer13
ENST00000447146.6:c.376_377del	ENSP00000391759.2:p.Arg126GlyfsTer13
ENST00000456306.1:c.258+274_258+275del
ENST00000456306.2:c.-33+274_-33+275del	ENSP00000393013.2:n.-33+274_-33+275del
ENST00000463529.4:n.376_377del
ENST00000465859.2:n.390_391del
ENST00000470059.5:n.376_377del
ENST00000470062.5:n.481_482del
ENST00000472742.5:n.545_546del
ENST00000472742.6:c.376_377del	ENSP00000509191.1:p.Arg126GlyfsTer13
ENST00000473764.5:n.948_949del
ENST00000473764.6:n.991_992del
ENST00000474671.5:n.436_437del
ENST00000474671.6:n.1185_1186del
ENST00000477997.5:n.457_458del
ENST00000477997.6:n.1111_1112del
ENST00000486150.6:n.1285_1286del
ENST00000651767.1:c.376_377del	ENSP00000498362.1:p.Arg126GlyfsTer13
ENST00000692023.1:c.*583_*584del	ENSP00000509927.1:n.*583_*584del
XM_005272571.3:c.376_377del	XP_005272628.1:p.Arg126GlyfsTer13
XM_005272572.3:c.292+274_292+275del	XP_005272629.1:n.292+274_292+275del
XM_005272572.4:c.292+274_292+275del	XP_005272629.1:n.292+274_292+275del
XM_011543884.1:c.376_377del	XP_011542186.1:p.Arg126GlyfsTer13
XM_011543884.2:c.376_377del	XP_011542186.1:p.Arg126GlyfsTer13
XM_017029207.1:c.376_377del	XP_016884696.1:p.Arg126GlyfsTer13