Canonical Allele Identifier: CA2638499774

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946938-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946939del , CM000679.2:g.47946939del	GRCh38
NC_000017.10:g.46024305del , CM000679.1:g.46024305del	GRCh37
NC_000017.9:g.43379304del	NCBI36
NG_008744.1:g.10417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*157del	ENSP00000225573.5:n.*157del
ENST00000434554.7:c.*157del	ENSP00000399960.3:n.*157del
ENST00000582171.6:c.*608del	ENSP00000463994.1:n.*608del
ENST00000584806.2:n.612del
ENST00000641305.1:n.2442del
ENST00000641323.1:c.*962del	ENSP00000492965.1:n.*962del
ENST00000641427.1:n.943del
ENST00000641703.1:c.659del	ENSP00000493219.1:n.659del
ENST00000641709.1:c.*765del	ENSP00000493349.1:n.*765del
ENST00000641856.1:c.*1451del	ENSP00000493224.1:n.*1451del
ENST00000642017.2:c.*157del MANE Select	ENSP00000493302.2:n.*157del
ENST00000225573.4:c.*157del	ENSP00000225573.4:n.*157del
ENST00000434554.6:c.*157del	ENSP00000399960.2:n.*157del
ENST00000582171.5:c.*608del	ENSP00000463994.1:n.*608del
NM_018129.3:c.*157del	NP_060599.1:n.*157del
XM_005257500.2:c.*157del	XP_005257557.1:n.*157del
XM_011524968.1:c.*157del	XP_011523270.1:n.*157del
XM_005257500.3:c.*157del	XP_005257557.1:n.*157del
XM_011524968.2:c.*157del	XP_011523270.1:n.*157del
XM_017024813.1:c.*157del	XP_016880302.1:n.*157del
NM_018129.4:c.*157del MANE Select	NP_060599.1:n.*157del