Canonical Allele Identifier: CA121286

Gene: PQBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902274_48902294del , CM000685.2:g.48902274_48902294del	GRCh38
NC_000023.10:g.48759551_48759571del , CM000685.1:g.48759551_48759571del	GRCh37
NC_000023.9:g.48644495_48644515del	NCBI36
NG_015967.1:g.9357_9377del
NG_015968.2:g.873_893del
NG_034300.1:g.14682_14702del

Transcript Alleles

HGVS	Amino-acid Change
NM_001032382.2:c.334_354del MANE Select	NP_001027554.1:p.Arg112_Asp118del
ENST00000447146.7:c.334_354del MANE Select	ENSP00000391759.2:p.Arg112_Asp118del
NM_001032381.1:c.334_354del	NP_001027553.1:p.Arg112_Asp118del
NM_001032381.2:c.334_354del	NP_001027553.1:p.Arg112_Asp118del
NM_001032382.1:c.334_354del	NP_001027554.1:p.Arg112_Asp118del
NM_001032383.1:c.334_354del	NP_001027555.1:p.Arg112_Asp118del
NM_001032383.2:c.334_354del	NP_001027555.1:p.Arg112_Asp118del
NM_001032384.1:c.334_354del	NP_001027556.1:p.Arg112_Asp118del
NM_001167989.1:c.334_354del	NP_001161461.1:p.Arg112_Asp118del
NM_001167989.2:c.334_354del	NP_001161461.1:p.Arg112_Asp118del
NM_001167990.1:c.310_330del	NP_001161462.1:p.Arg104_Asp110del
NM_001167990.2:c.310_330del	NP_001161462.1:p.Arg104_Asp110del
NM_001167992.1:c.202-168_202-148del	NP_001161464.1:n.202-168_202-148del
NM_005710.2:c.334_354del	NP_005701.1:p.Arg112_Asp118del
NM_144495.2:c.292+232_292+252del	NP_652766.1:n.292+232_292+252del
NM_144495.3:c.292+232_292+252del	NP_652766.1:n.292+232_292+252del
ENST00000218224.8:c.334_354del	ENSP00000218224.4:p.Arg112_Asp118del
ENST00000218224.9:c.334_354del	ENSP00000218224.4:p.Arg112_Asp118del
ENST00000247140.8:c.292+232_292+252del	ENSP00000247140.4:n.292+232_292+252del
ENST00000376563.5:c.334_354del	ENSP00000365747.1:p.Arg112_Asp118del
ENST00000376563.6:c.334_354del	ENSP00000365747.1:p.Arg112_Asp118del
ENST00000376566.8:c.292+232_292+252del	ENSP00000365750.4:n.292+232_292+252del
ENST00000396763.5:c.334_354del	ENSP00000379985.1:p.Arg112_Asp118del
ENST00000396763.6:c.334_354del	ENSP00000379985.1:p.Arg112_Asp118del
ENST00000443648.5:c.334_354del	ENSP00000414861.1:p.Arg112_Asp118del
ENST00000443648.6:c.334_354del	ENSP00000414861.2:p.Arg112_Asp118del
ENST00000447146.6:c.334_354del	ENSP00000391759.2:p.Arg112_Asp118del
ENST00000456306.1:c.258+232_258+252del
ENST00000456306.2:c.-33+232_-33+252del	ENSP00000393013.2:n.-33+232_-33+252del
ENST00000463529.4:n.334_354del
ENST00000465859.2:n.348_368del
ENST00000470059.5:n.334_354del
ENST00000470062.5:n.439_459del
ENST00000472742.5:n.503_523del
ENST00000472742.6:c.334_354del	ENSP00000509191.1:p.Arg112_Asp118del
ENST00000473764.5:n.906_926del
ENST00000473764.6:n.949_969del
ENST00000474671.5:n.394_414del
ENST00000474671.6:n.1143_1163del
ENST00000477997.5:n.415_435del
ENST00000477997.6:n.1069_1089del
ENST00000486150.6:n.1243_1263del
ENST00000651767.1:c.334_354del	ENSP00000498362.1:p.Arg112_Asp118del
ENST00000692023.1:c.*541_*561del	ENSP00000509927.1:n.*541_*561del
XM_005272571.3:c.334_354del	XP_005272628.1:p.Arg112_Asp118del
XM_005272572.3:c.292+232_292+252del	XP_005272629.1:n.292+232_292+252del
XM_005272572.4:c.292+232_292+252del	XP_005272629.1:n.292+232_292+252del
XM_011543884.1:c.334_354del	XP_011542186.1:p.Arg112_Asp118del
XM_011543884.2:c.334_354del	XP_011542186.1:p.Arg112_Asp118del
XM_017029207.1:c.334_354del	XP_016884696.1:p.Arg112_Asp118del