Canonical Allele Identifier: CA1252405641

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680760_55680761delinsCT , CM000664.2:g.55680760_55680761delinsCT	GRCh38
NC_000002.11:g.55907895_55907896delinsCT , CM000664.1:g.55907895_55907896delinsCT	GRCh37
NC_000002.10:g.55761399_55761400delinsCT	NCBI36
NG_033012.1:g.18150_18151delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.518-2_518-1delinsAG MANE Select	ENSP00000400646.2:n.518-2_518-1delinsAG
ENST00000260604.8:c.*71_*72delinsAG	ENSP00000260604.4:n.*71_*72delinsAG
ENST00000415374.5:c.518-2_518-1delinsAG	ENSP00000393953.1:n.518-2_518-1delinsAG
ENST00000429805.1:c.*166-2_*166-1delinsAG	ENSP00000411994.1:n.*166-2_*166-1delinsAG...
ENST00000447944.6:c.518-2_518-1delinsAG	ENSP00000400646.2:n.518-2_518-1delinsAG
NM_033109.4:c.518-2_518-1delinsAG	NP_149100.2:n.518-2_518-1delinsAG
XM_005264629.1:c.278-2_278-1delinsAG	XP_005264686.1:n.278-2_278-1delinsAG
XM_011533142.1:c.518-2_518-1delinsAG	XP_011531444.1:n.518-2_518-1delinsAG
XM_005264629.2:c.278-2_278-1delinsAG	XP_005264686.1:n.278-2_278-1delinsAG
XM_017005172.1:c.278-2_278-1delinsAG	XP_016860661.1:n.278-2_278-1delinsAG
XR_001739010.1:n.548-2_548-1delinsAG
NM_033109.5:c.518-2_518-1delinsAG MANE Select	NP_149100.2:n.518-2_518-1delinsAG