Canonical Allele Identifier: CA2638499779

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946939-CAGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946940_47946943del , CM000679.2:g.47946940_47946943del	GRCh38
NC_000017.10:g.46024306_46024309del , CM000679.1:g.46024306_46024309del	GRCh37
NC_000017.9:g.43379305_43379308del	NCBI36
NG_008744.1:g.10418_10421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*158_*161del	ENSP00000225573.5:n.*158_*161del
ENST00000434554.7:c.*158_*161del	ENSP00000399960.3:n.*158_*161del
ENST00000582171.6:c.*609_*612del	ENSP00000463994.1:n.*609_*612del
ENST00000584806.2:n.613_616del
ENST00000641305.1:n.2443_2446del
ENST00000641323.1:c.*963_*966del	ENSP00000492965.1:n.*963_*966del
ENST00000641427.1:n.944_947del
ENST00000641703.1:c.660_663del	ENSP00000493219.1:n.660_663del
ENST00000641709.1:c.*766_*769del	ENSP00000493349.1:n.*766_*769del
ENST00000641856.1:c.*1452_*1455del	ENSP00000493224.1:n.*1452_*1455del
ENST00000642017.2:c.*158_*161del MANE Select	ENSP00000493302.2:n.*158_*161del
ENST00000225573.4:c.*158_*161del	ENSP00000225573.4:n.*158_*161del
ENST00000434554.6:c.*158_*161del	ENSP00000399960.2:n.*158_*161del
ENST00000582171.5:c.*609_*612del	ENSP00000463994.1:n.*609_*612del
NM_018129.3:c.*158_*161del	NP_060599.1:n.*158_*161del
XM_005257500.2:c.*158_*161del	XP_005257557.1:n.*158_*161del
XM_011524968.1:c.*158_*161del	XP_011523270.1:n.*158_*161del
XM_005257500.3:c.*158_*161del	XP_005257557.1:n.*158_*161del
XM_011524968.2:c.*158_*161del	XP_011523270.1:n.*158_*161del
XM_017024813.1:c.*158_*161del	XP_016880302.1:n.*158_*161del
NM_018129.4:c.*158_*161del MANE Select	NP_060599.1:n.*158_*161del