Canonical Allele Identifier: CA2638499676

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946903-G-GAC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946904_47946905dup , CM000679.2:g.47946904_47946905dup	GRCh38
NC_000017.10:g.46024270_46024271dup , CM000679.1:g.46024270_46024271dup	GRCh37
NC_000017.9:g.43379269_43379270dup	NCBI36
NG_008744.1:g.10382_10383dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*122_*123dup	ENSP00000225573.5:n.*122_*123dup
ENST00000434554.7:c.*122_*123dup	ENSP00000399960.3:n.*122_*123dup
ENST00000582171.6:c.*573_*574dup	ENSP00000463994.1:n.*573_*574dup
ENST00000584806.2:n.577_578dup
ENST00000641305.1:n.2407_2408dup
ENST00000641323.1:c.*927_*928dup	ENSP00000492965.1:n.*927_*928dup
ENST00000641427.1:n.908_909dup
ENST00000641703.1:c.624_625dup	ENSP00000493219.1:n.624_625dup
ENST00000641709.1:c.*730_*731dup	ENSP00000493349.1:n.*730_*731dup
ENST00000641856.1:c.*1416_*1417dup	ENSP00000493224.1:n.*1416_*1417dup
ENST00000642017.2:c.*122_*123dup MANE Select	ENSP00000493302.2:n.*122_*123dup
ENST00000225573.4:c.*122_*123dup	ENSP00000225573.4:n.*122_*123dup
ENST00000434554.6:c.*122_*123dup	ENSP00000399960.2:n.*122_*123dup
ENST00000582171.5:c.*573_*574dup	ENSP00000463994.1:n.*573_*574dup
NM_018129.3:c.*122_*123dup	NP_060599.1:n.*122_*123dup
XM_005257500.2:c.*122_*123dup	XP_005257557.1:n.*122_*123dup
XM_011524968.1:c.*122_*123dup	XP_011523270.1:n.*122_*123dup
XM_005257500.3:c.*122_*123dup	XP_005257557.1:n.*122_*123dup
XM_011524968.2:c.*122_*123dup	XP_011523270.1:n.*122_*123dup
XM_017024813.1:c.*122_*123dup	XP_016880302.1:n.*122_*123dup
NM_018129.4:c.*122_*123dup MANE Select	NP_060599.1:n.*122_*123dup