Canonical Allele Identifier: CA2741749436

Gene: PQBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902939_48902940insGACCACGTCGAC , CM000685.2:g.48902939_48902940insGACCACGTCGAC	GRCh38
NC_000023.10:g.48760216_48760217insGACCACGTCGAC , CM000685.1:g.48760216_48760217insGACCACGTCGAC	GRCh37
NC_000023.9:g.48645160_48645161insGACCACGTCGAC	NCBI36
NG_015967.1:g.10022_10023insGACCACGTCGAC
NG_015968.2:g.211_212insTCGACGTGGTCG
NG_034300.1:g.14020_14021insTCGACGTGGTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.653_654insGACCACGTCGAC	ENSP00000218224.4:p.Ser218_Thr219insThrThrSerThr
ENST00000376563.6:c.653_654insGACCACGTCGAC	ENSP00000365747.1:p.Ser218_Thr219insThrThrSerThr
ENST00000396763.6:c.653_654insGACCACGTCGAC	ENSP00000379985.1:p.Ser218_Thr219insThrThrSerThr
ENST00000443648.6:c.653_654insGACCACGTCGAC	ENSP00000414861.2:p.Ser218_Thr219insThrThrSerThr
ENST00000456306.2:c.44_45insGACCACGTCGAC	ENSP00000393013.2:p.Ser15_Thr16insThrThrSerThr
ENST00000472742.6:c.*70_*71insGACCACGTCGAC	ENSP00000509191.1:n.*70_*71insGACCACGTCGAC
ENST00000474671.6:n.1808_1809insGACCACGTCGAC
ENST00000477997.6:n.1602_1603insGACCACGTCGAC
ENST00000486150.6:n.1908_1909insGACCACGTCGAC
ENST00000692023.1:c.*1074_*1075insGACCACGTCGAC	ENSP00000509927.1:n.*1074_*1075insGACCACGTCGAC
ENST00000447146.7:c.653_654insGACCACGTCGAC MANE Select	ENSP00000391759.2:p.Ser218_Thr219insThrThrSerThr
ENST00000651767.1:c.653_654insGACCACGTCGAC	ENSP00000498362.1:p.Ser218_Thr219insThrThrSerThr
ENST00000218224.8:c.653_654insGACCACGTCGAC	ENSP00000218224.4:p.Ser218_Thr219insThrThrSerThr
ENST00000247140.8:c.368_369insGACCACGTCGAC	ENSP00000247140.4:p.Ser123_Thr124insThrThrSerThr
ENST00000376563.5:c.653_654insGACCACGTCGAC	ENSP00000365747.1:p.Ser218_Thr219insThrThrSerThr
ENST00000376566.8:c.368_369insGACCACGTCGAC	ENSP00000365750.4:p.Ser123_Thr124insThrThrSerThr
ENST00000396763.5:c.653_654insGACCACGTCGAC	ENSP00000379985.1:p.Ser218_Thr219insThrThrSerThr
ENST00000447146.6:c.653_654insGACCACGTCGAC	ENSP00000391759.2:p.Ser218_Thr219insThrThrSerThr
ENST00000456306.1:c.334_335insGACCACGTCGAC
ENST00000463529.4:n.999_1000insGACCACGTCGAC
ENST00000465859.2:n.667_668insGACCACGTCGAC
ENST00000470059.5:n.867_868insGACCACGTCGAC
ENST00000470062.5:n.625_626insGACCACGTCGAC
ENST00000473764.5:n.1225_1226insGACCACGTCGAC
ENST00000474671.5:n.713_714insGACCACGTCGAC
ENST00000477997.5:n.734_735insGACCACGTCGAC
NM_001032381.1:c.653_654insGACCACGTCGAC	NP_001027553.1:p.Ser218_Thr219insThrThrSerThr
NM_001032382.1:c.653_654insGACCACGTCGAC	NP_001027554.1:p.Ser218_Thr219insThrThrSerThr
NM_001032383.1:c.653_654insGACCACGTCGAC	NP_001027555.1:p.Ser218_Thr219insThrThrSerThr
NM_001032384.1:c.653_654insGACCACGTCGAC	NP_001027556.1:p.Ser218_Thr219insThrThrSerThr
NM_001167989.1:c.650_651insGACCACGTCGAC	NP_001161461.1:p.Ser217_Thr218insThrThrSerThr
NM_001167990.1:c.629_630insGACCACGTCGAC	NP_001161462.1:p.Ser210_Thr211insThrThrSerThr
NM_001167992.1:c.353_354insGACCACGTCGAC	NP_001161464.1:p.Ser118_Thr119insThrThrSerThr
NM_005710.2:c.653_654insGACCACGTCGAC	NP_005701.1:p.Ser218_Thr219insThrThrSerThr
NM_144495.2:c.368_369insGACCACGTCGAC	NP_652766.1:p.Ser123_Thr124insThrThrSerThr
XM_005272571.3:c.650_651insGACCACGTCGAC	XP_005272628.1:p.Ser217_Thr218insThrThrSerThr
XM_005272572.3:c.368_369insGACCACGTCGAC	XP_005272629.1:p.Ser123_Thr124insThrThrSerThr
XM_011543884.1:c.653_654insGACCACGTCGAC	XP_011542186.1:p.Ser218_Thr219insThrThrSerThr
XM_005272572.4:c.368_369insGACCACGTCGAC	XP_005272629.1:p.Ser123_Thr124insThrThrSerThr
XM_011543884.2:c.653_654insGACCACGTCGAC	XP_011542186.1:p.Ser218_Thr219insThrThrSerThr
XM_017029207.1:c.650_651insGACCACGTCGAC	XP_016884696.1:p.Ser217_Thr218insThrThrSerThr
NM_001032381.2:c.653_654insGACCACGTCGAC	NP_001027553.1:p.Ser218_Thr219insThrThrSerThr
NM_001032382.2:c.653_654insGACCACGTCGAC MANE Select	NP_001027554.1:p.Ser218_Thr219insThrThrSerThr
NM_001032383.2:c.653_654insGACCACGTCGAC	NP_001027555.1:p.Ser218_Thr219insThrThrSerThr
NM_001167989.2:c.650_651insGACCACGTCGAC	NP_001161461.1:p.Ser217_Thr218insThrThrSerThr
NM_001167990.2:c.629_630insGACCACGTCGAC	NP_001161462.1:p.Ser210_Thr211insThrThrSerThr
NM_144495.3:c.368_369insGACCACGTCGAC	NP_652766.1:p.Ser123_Thr124insThrThrSerThr