Canonical Allele Identifier: CA2638499471

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946777-C-CCTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946780_47946784dup , CM000679.2:g.47946780_47946784dup	GRCh38
NC_000017.10:g.46024146_46024150dup , CM000679.1:g.46024146_46024150dup	GRCh37
NC_000017.9:g.43379145_43379149dup	NCBI36
NG_008744.1:g.10258_10262dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.655_*2dup	ENSP00000225573.5:n.655_*2dup
ENST00000434554.7:c.730_*2dup	ENSP00000399960.3:n.730_*2dup
ENST00000582171.6:c.*449_*453dup	ENSP00000463994.1:n.*449_*453dup
ENST00000584061.6:c.715_719dup	ENSP00000463972.2:n.715_719dup
ENST00000584806.2:n.453_457dup
ENST00000641305.1:n.2283_2287dup
ENST00000641323.1:c.*803_*807dup	ENSP00000492965.1:n.*803_*807dup
ENST00000641427.1:n.784_788dup
ENST00000641703.1:c.500_504dup	ENSP00000493219.1:n.500_504dup
ENST00000641709.1:c.*606_*610dup	ENSP00000493349.1:n.*606_*610dup
ENST00000641856.1:c.*1292_*1296dup	ENSP00000493224.1:n.*1292_*1296dup
ENST00000642017.2:c.784_*2dup MANE Select	ENSP00000493302.2:n.784_*2dup
ENST00000225573.4:c.784_*2dup	ENSP00000225573.4:n.784_*2dup
ENST00000434554.6:c.655_*2dup	ENSP00000399960.2:n.655_*2dup
ENST00000582171.5:c.*449_*453dup	ENSP00000463994.1:n.*449_*453dup
ENST00000584806.1:n.453_457dup
NM_018129.3:c.784_*2dup	NP_060599.1:n.784_*2dup
XM_005257500.2:c.544_*2dup	XP_005257557.1:n.544_*2dup
XM_011524968.1:c.499_*2dup	XP_011523270.1:n.499_*2dup
XM_005257500.3:c.544_*2dup	XP_005257557.1:n.544_*2dup
XM_011524968.2:c.499_*2dup	XP_011523270.1:n.499_*2dup
XM_017024813.1:c.544_*2dup	XP_016880302.1:n.544_*2dup
NM_018129.4:c.784_*2dup MANE Select	NP_060599.1:n.784_*2dup