Canonical Allele Identifier: CA645594319

Gene: PGAP3

Linked Data

• COSMIC: COSM5576338

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39687896_39687898delinsGTG , CM000679.2:g.39687896_39687898delinsGTG	GRCh38
NC_000017.10:g.37844149_37844151delinsGTG , CM000679.1:g.37844149_37844151delinsGTG	GRCh37
NC_000017.9:g.35097675_35097677delinsGTG	NCBI36
NG_007503.1:g.4757_4759delinsGTG , LRG_724:g.4757_4759delinsGTG
NG_034125.1:g.5173_5175delinsCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.117_119delinsCAC MANE Select	ENSP00000300658.4:p.Gln39_Asn40delinsHisThr
ENST00000300658.8:c.117_119delinsCAC	ENSP00000300658.4:p.Gln39_Asn40delinsHisThr
ENST00000309862.10:n.160_162delinsCAC
ENST00000378011.8:c.117_119delinsCAC	ENSP00000367250.4:p.Gln39_Asn40delinsHisThr
ENST00000429199.6:c.117_119delinsCAC	ENSP00000415765.2:p.Gln39_Asn40delinsHisThr
ENST00000579146.5:c.117_119delinsCAC	ENSP00000463234.1:p.Gln39_Asn40delinsHisThr
ENST00000582276.1:n.152_154delinsCAC
ENST00000584620.5:c.104_106delinsCAC
ENST00000584856.1:c.-35-1879_-35-1877delinsCAC	ENSP00000463785.1:n.-35-1879_-35-1877delinsCAC
ENST00000614824.4:c.117_119delinsCAC	ENSP00000480165.1:p.Gln39_Asn40delinsHisThr
NM_001291726.1:c.117_119delinsCAC	NP_001278655.1:p.Gln39_Asn40delinsHisThr
NM_001291728.1:c.117_119delinsCAC	NP_001278657.1:p.Gln39_Asn40delinsHisThr
NM_001291730.1:c.117_119delinsCAC	NP_001278659.1:p.Gln39_Asn40delinsHisThr
NM_001291732.1:c.117_119delinsCAC	NP_001278661.1:p.Gln39_Asn40delinsHisThr
NM_001291733.1:c.117_119delinsCAC	NP_001278662.1:p.Gln39_Asn40delinsHisThr
NM_033419.4:c.117_119delinsCAC	NP_219487.3:p.Gln39_Asn40delinsHisThr
XM_011525480.1:c.117_119delinsCAC	XP_011523782.1:p.Gln39_Asn40delinsHisThr
XM_011525481.1:c.-371_-369delinsCAC	XP_011523783.1:n.-371_-369delinsCAC
XR_934601.1:n.160_162delinsCAC
XM_011525480.2:c.117_119delinsCAC	XP_011523782.1:p.Gln39_Asn40delinsHisThr
XM_011525481.2:c.-371_-369delinsCAC	XP_011523783.1:n.-371_-369delinsCAC
XR_002958086.1:n.160_162delinsCAC
NM_033419.5:c.117_119delinsCAC MANE Select	NP_219487.3:p.Gln39_Asn40delinsHisThr
NM_001291726.2:c.117_119delinsCAC	NP_001278655.1:p.Gln39_Asn40delinsHisThr
NM_001291728.2:c.117_119delinsCAC	NP_001278657.1:p.Gln39_Asn40delinsHisThr
NM_001291730.2:c.117_119delinsCAC	NP_001278659.1:p.Gln39_Asn40delinsHisThr
NM_001291732.2:c.117_119delinsCAC	NP_001278661.1:p.Gln39_Asn40delinsHisThr
NM_001291733.2:c.117_119delinsCAC	NP_001278662.1:p.Gln39_Asn40delinsHisThr