Canonical Allele Identifier: CA2262900719

Gene: PNPO

Linked Data

• dbSNP Id: rs2036018208
• gnomAD v4: 17-47946864-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946867del , CM000679.2:g.47946867del	GRCh38
NC_000017.10:g.46024233del , CM000679.1:g.46024233del	GRCh37
NC_000017.9:g.43379232del	NCBI36
NG_008744.1:g.10345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*85del	ENSP00000225573.5:n.*85del
ENST00000434554.7:c.*85del	ENSP00000399960.3:n.*85del
ENST00000582171.6:c.*536del	ENSP00000463994.1:n.*536del
ENST00000584806.2:n.540del
ENST00000641305.1:n.2370del
ENST00000641323.1:c.*890del	ENSP00000492965.1:n.*890del
ENST00000641427.1:n.871del
ENST00000641703.1:c.587del	ENSP00000493219.1:n.587del
ENST00000641709.1:c.*693del	ENSP00000493349.1:n.*693del
ENST00000641856.1:c.*1379del	ENSP00000493224.1:n.*1379del
ENST00000642017.2:c.*85del MANE Select	ENSP00000493302.2:n.*85del
ENST00000225573.4:c.*85del	ENSP00000225573.4:n.*85del
ENST00000434554.6:c.*85del	ENSP00000399960.2:n.*85del
ENST00000582171.5:c.*536del	ENSP00000463994.1:n.*536del
ENST00000584806.1:n.540del
NM_018129.3:c.*85del	NP_060599.1:n.*85del
XM_005257500.2:c.*85del	XP_005257557.1:n.*85del
XM_011524968.1:c.*85del	XP_011523270.1:n.*85del
XM_005257500.3:c.*85del	XP_005257557.1:n.*85del
XM_011524968.2:c.*85del	XP_011523270.1:n.*85del
XM_017024813.1:c.*85del	XP_016880302.1:n.*85del
NM_018129.4:c.*85del MANE Select	NP_060599.1:n.*85del