Canonical Allele Identifier: CA2428428113

Gene: PQBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902915_48902917delinsCTT , CM000685.2:g.48902915_48902917delinsCTT	GRCh38
NC_000023.10:g.48760192_48760194delinsCTT , CM000685.1:g.48760192_48760194delinsCTT	GRCh37
NC_000023.9:g.48645136_48645138delinsCTT	NCBI36
NG_015967.1:g.9998_10000delinsCTT
NG_015968.2:g.233_235delinsAAG
NG_034300.1:g.14042_14044delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.642-13_642-11delinsCTT	ENSP00000218224.4:n.642-13_642-11delinsCTT
ENST00000376563.6:c.642-13_642-11delinsCTT	ENSP00000365747.1:n.642-13_642-11delinsCTT
ENST00000396763.6:c.642-13_642-11delinsCTT	ENSP00000379985.1:n.642-13_642-11delinsCTT
ENST00000443648.6:c.642-13_642-11delinsCTT	ENSP00000414861.2:n.642-13_642-11delinsCTT
ENST00000456306.2:c.33-13_33-11delinsCTT	ENSP00000393013.2:n.33-13_33-11delinsCTT
ENST00000472742.6:c.*59-13_*59-11delinsCTT	ENSP00000509191.1:n.*59-13_*59-11delinsCTT
ENST00000474671.6:n.1784_1786delinsCTT
ENST00000477997.6:n.1591-13_1591-11delinsCTT
ENST00000486150.6:n.1884_1886delinsCTT
ENST00000692023.1:c.*1063-13_*1063-11delinsCTT	ENSP00000509927.1:n.*1063-13_*1063-11delinsCTT
ENST00000447146.7:c.642-13_642-11delinsCTT MANE Select	ENSP00000391759.2:n.642-13_642-11delinsCTT
ENST00000651767.1:c.642-13_642-11delinsCTT	ENSP00000498362.1:n.642-13_642-11delinsCTT
ENST00000218224.8:c.642-13_642-11delinsCTT	ENSP00000218224.4:n.642-13_642-11delinsCTT
ENST00000247140.8:c.357-13_357-11delinsCTT	ENSP00000247140.4:n.357-13_357-11delinsCTT
ENST00000376563.5:c.642-13_642-11delinsCTT	ENSP00000365747.1:n.642-13_642-11delinsCTT
ENST00000376566.8:c.357-13_357-11delinsCTT	ENSP00000365750.4:n.357-13_357-11delinsCTT
ENST00000396763.5:c.642-13_642-11delinsCTT	ENSP00000379985.1:n.642-13_642-11delinsCTT
ENST00000447146.6:c.642-13_642-11delinsCTT	ENSP00000391759.2:n.642-13_642-11delinsCTT
ENST00000456306.1:c.323-13_323-11delinsCTT
ENST00000463529.4:n.975_977delinsCTT
ENST00000465859.2:n.656-13_656-11delinsCTT
ENST00000470059.5:n.856-13_856-11delinsCTT
ENST00000470062.5:n.614-13_614-11delinsCTT
ENST00000473764.5:n.1214-13_1214-11delinsCTT
ENST00000474671.5:n.702-13_702-11delinsCTT
ENST00000477997.5:n.723-13_723-11delinsCTT
NM_001032381.1:c.642-13_642-11delinsCTT	NP_001027553.1:n.642-13_642-11delinsCTT
NM_001032382.1:c.642-13_642-11delinsCTT	NP_001027554.1:n.642-13_642-11delinsCTT
NM_001032383.1:c.642-13_642-11delinsCTT	NP_001027555.1:n.642-13_642-11delinsCTT
NM_001032384.1:c.642-13_642-11delinsCTT	NP_001027556.1:n.642-13_642-11delinsCTT
NM_001167989.1:c.639-13_639-11delinsCTT	NP_001161461.1:n.639-13_639-11delinsCTT
NM_001167990.1:c.618-13_618-11delinsCTT	NP_001161462.1:n.618-13_618-11delinsCTT
NM_001167992.1:c.342-13_342-11delinsCTT	NP_001161464.1:n.342-13_342-11delinsCTT
NM_005710.2:c.642-13_642-11delinsCTT	NP_005701.1:n.642-13_642-11delinsCTT
NM_144495.2:c.357-13_357-11delinsCTT	NP_652766.1:n.357-13_357-11delinsCTT
XM_005272571.3:c.639-13_639-11delinsCTT	XP_005272628.1:n.639-13_639-11delinsCTT
XM_005272572.3:c.357-13_357-11delinsCTT	XP_005272629.1:n.357-13_357-11delinsCTT
XM_011543884.1:c.642-13_642-11delinsCTT	XP_011542186.1:n.642-13_642-11delinsCTT
XM_005272572.4:c.357-13_357-11delinsCTT	XP_005272629.1:n.357-13_357-11delinsCTT
XM_011543884.2:c.642-13_642-11delinsCTT	XP_011542186.1:n.642-13_642-11delinsCTT
XM_017029207.1:c.639-13_639-11delinsCTT	XP_016884696.1:n.639-13_639-11delinsCTT
NM_001032381.2:c.642-13_642-11delinsCTT	NP_001027553.1:n.642-13_642-11delinsCTT
NM_001032382.2:c.642-13_642-11delinsCTT MANE Select	NP_001027554.1:n.642-13_642-11delinsCTT
NM_001032383.2:c.642-13_642-11delinsCTT	NP_001027555.1:n.642-13_642-11delinsCTT
NM_001167989.2:c.639-13_639-11delinsCTT	NP_001161461.1:n.639-13_639-11delinsCTT
NM_001167990.2:c.618-13_618-11delinsCTT	NP_001161462.1:n.618-13_618-11delinsCTT
NM_144495.3:c.357-13_357-11delinsCTT	NP_652766.1:n.357-13_357-11delinsCTT