Canonical Allele Identifier: CA2809704084

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946850_47946851insCACCCCCAAACACACCCAACAC , CM000679.2:g.47946850_47946851insCACCCCCAAACACACCCAACAC	GRCh38
NC_000017.10:g.46024216_46024217insCACCCCCAAACACACCCAACAC , CM000679.1:g.46024216_46024217insCACCCCCAAACACACCCAACAC	GRCh37
NC_000017.9:g.43379215_43379216insCACCCCCAAACACACCCAACAC	NCBI36
NG_008744.1:g.10328_10329insCACCCCCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*68_*69insCACCCCCAAACACACCCAACAC	ENSP00000225573.5:n.*68_*69insCACCCCCAAACACACCCAACAC
ENST00000434554.7:c.*68_*69insCACCCCCAAACACACCCAACAC	ENSP00000399960.3:n.*68_*69insCACCCCCAAACACACCCAACAC
ENST00000582171.6:c.*519_*520insCACCCCCAAACACACCCAACAC	ENSP00000463994.1:n.*519_*520insCACCCCCAAACACACCCAACAC
ENST00000584806.2:n.523_524insCACCCCCAAACACACCCAACAC
ENST00000641305.1:n.2353_2354insCACCCCCAAACACACCCAACAC
ENST00000641323.1:c.*873_*874insCACCCCCAAACACACCCAACAC	ENSP00000492965.1:n.*873_*874insCACCCCCAAACACACCCAACAC
ENST00000641427.1:n.854_855insCACCCCCAAACACACCCAACAC
ENST00000641703.1:c.570_571insCACCCCCAAACACACCCAACAC	ENSP00000493219.1:n.570_571insCACCCCCAAACACACCCAACAC
ENST00000641709.1:c.*676_*677insCACCCCCAAACACACCCAACAC	ENSP00000493349.1:n.*676_*677insCACCCCCAAACACACCCAACAC
ENST00000641856.1:c.*1362_*1363insCACCCCCAAACACACCCAACAC	ENSP00000493224.1:n.*1362_*1363insCACCCCCAAACACACCCAACAC
ENST00000642017.2:c.*68_*69insCACCCCCAAACACACCCAACAC MANE Select	ENSP00000493302.2:n.*68_*69insCACCCCCAAACACACCCAACAC
ENST00000225573.4:c.*68_*69insCACCCCCAAACACACCCAACAC	ENSP00000225573.4:n.*68_*69insCACCCCCAAACACACCCAACAC
ENST00000434554.6:c.*68_*69insCACCCCCAAACACACCCAACAC	ENSP00000399960.2:n.*68_*69insCACCCCCAAACACACCCAACAC
ENST00000582171.5:c.*519_*520insCACCCCCAAACACACCCAACAC	ENSP00000463994.1:n.*519_*520insCACCCCCAAACACACCCAACAC
ENST00000584806.1:n.523_524insCACCCCCAAACACACCCAACAC
NM_018129.3:c.*68_*69insCACCCCCAAACACACCCAACAC	NP_060599.1:n.*68_*69insCACCCCCAAACACACCCAACAC
XM_005257500.2:c.*68_*69insCACCCCCAAACACACCCAACAC	XP_005257557.1:n.*68_*69insCACCCCCAAACACACCCAACAC
XM_011524968.1:c.*68_*69insCACCCCCAAACACACCCAACAC	XP_011523270.1:n.*68_*69insCACCCCCAAACACACCCAACAC
XM_005257500.3:c.*68_*69insCACCCCCAAACACACCCAACAC	XP_005257557.1:n.*68_*69insCACCCCCAAACACACCCAACAC
XM_011524968.2:c.*68_*69insCACCCCCAAACACACCCAACAC	XP_011523270.1:n.*68_*69insCACCCCCAAACACACCCAACAC
XM_017024813.1:c.*68_*69insCACCCCCAAACACACCCAACAC	XP_016880302.1:n.*68_*69insCACCCCCAAACACACCCAACAC
NM_018129.4:c.*68_*69insCACCCCCAAACACACCCAACAC MANE Select	NP_060599.1:n.*68_*69insCACCCCCAAACACACCCAACAC