Canonical Allele Identifier: CA2262900661

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946728_47946729delinsGC , CM000679.2:g.47946728_47946729delinsGC	GRCh38
NC_000017.10:g.46024094_46024095delinsGC , CM000679.1:g.46024094_46024095delinsGC	GRCh37
NC_000017.9:g.43379093_43379094delinsGC	NCBI36
NG_008744.1:g.10206_10207delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.603_604delinsGC	ENSP00000225573.5:p.Gly201=
ENST00000434554.7:c.678_679delinsGC	ENSP00000399960.3:p.Gly226=
ENST00000582171.6:c.*397_*398delinsGC	ENSP00000463994.1:n.*397_*398delinsGC
ENST00000583599.6:c.492_493delinsGC	ENSP00000463919.2:p.Gly164=
ENST00000584061.6:c.663_664delinsGC	ENSP00000463972.2:p.Gly221=
ENST00000584806.2:n.401_402delinsGC
ENST00000641305.1:n.2231_2232delinsGC
ENST00000641323.1:c.*751_*752delinsGC	ENSP00000492965.1:n.*751_*752delinsGC
ENST00000641427.1:n.732_733delinsGC
ENST00000641703.1:c.448_449delinsGC	ENSP00000493219.1:n.448_449delinsGC
ENST00000641709.1:c.*554_*555delinsGC	ENSP00000493349.1:n.*554_*555delinsGC
ENST00000641856.1:c.*1240_*1241delinsGC	ENSP00000493224.1:n.*1240_*1241delinsGC
ENST00000642017.2:c.732_733delinsGC MANE Select	ENSP00000493302.2:p.Gly244=
ENST00000225573.4:c.732_733delinsGC	ENSP00000225573.4:p.Gly244=
ENST00000434554.6:c.603_604delinsGC	ENSP00000399960.2:p.Gly201=
ENST00000582171.5:c.*397_*398delinsGC	ENSP00000463994.1:n.*397_*398delinsGC
ENST00000584806.1:n.401_402delinsGC
ENST00000585320.5:c.*214_*215delinsGC	ENSP00000462345.1:n.*214_*215delinsGC
NM_018129.3:c.732_733delinsGC	NP_060599.1:p.Gly244=
XM_005257500.2:c.492_493delinsGC	XP_005257557.1:p.Gly164=
XM_011524968.1:c.447_448delinsGC	XP_011523270.1:p.Gly149=
XM_005257500.3:c.492_493delinsGC	XP_005257557.1:p.Gly164=
XM_011524968.2:c.447_448delinsGC	XP_011523270.1:p.Gly149=
XM_017024813.1:c.492_493delinsGC	XP_016880302.1:p.Gly164=
NM_018129.4:c.732_733delinsGC MANE Select	NP_060599.1:p.Gly244=