Canonical Allele Identifier: CA2262900765

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946979_47946980delinsTG , CM000679.2:g.47946979_47946980delinsTG	GRCh38
NC_000017.10:g.46024345_46024346delinsTG , CM000679.1:g.46024345_46024346delinsTG	GRCh37
NC_000017.9:g.43379344_43379345delinsTG	NCBI36
NG_008744.1:g.10457_10458delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*197_*198delinsTG	ENSP00000225573.5:n.*197_*198delinsTG
ENST00000434554.7:c.*197_*198delinsTG	ENSP00000399960.3:n.*197_*198delinsTG
ENST00000582171.6:c.*648_*649delinsTG	ENSP00000463994.1:n.*648_*649delinsTG
ENST00000584806.2:n.652_653delinsTG
ENST00000641305.1:n.2482_2483delinsTG
ENST00000641323.1:c.*1002_*1003delinsTG	ENSP00000492965.1:n.*1002_*1003delinsTG
ENST00000641427.1:n.983_984delinsTG
ENST00000641703.1:c.699_700delinsTG	ENSP00000493219.1:n.699_700delinsTG
ENST00000641709.1:c.*805_*806delinsTG	ENSP00000493349.1:n.*805_*806delinsTG
ENST00000641856.1:c.*1491_*1492delinsTG	ENSP00000493224.1:n.*1491_*1492delinsTG
ENST00000642017.2:c.*197_*198delinsTG MANE Select	ENSP00000493302.2:n.*197_*198delinsTG
ENST00000225573.4:c.*197_*198delinsTG	ENSP00000225573.4:n.*197_*198delinsTG
ENST00000434554.6:c.*197_*198delinsTG	ENSP00000399960.2:n.*197_*198delinsTG
ENST00000582171.5:c.*648_*649delinsTG	ENSP00000463994.1:n.*648_*649delinsTG
NM_018129.3:c.*197_*198delinsTG	NP_060599.1:n.*197_*198delinsTG
XM_005257500.2:c.*197_*198delinsTG	XP_005257557.1:n.*197_*198delinsTG
XM_011524968.1:c.*197_*198delinsTG	XP_011523270.1:n.*197_*198delinsTG
XM_005257500.3:c.*197_*198delinsTG	XP_005257557.1:n.*197_*198delinsTG
XM_011524968.2:c.*197_*198delinsTG	XP_011523270.1:n.*197_*198delinsTG
XM_017024813.1:c.*197_*198delinsTG	XP_016880302.1:n.*197_*198delinsTG
NM_018129.4:c.*197_*198delinsTG MANE Select	NP_060599.1:n.*197_*198delinsTG