Canonical Allele Identifier: CA1667724

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55636291_55636293del , CM000664.2:g.55636291_55636293del	GRCh38
NC_000002.11:g.55863426_55863428del , CM000664.1:g.55863426_55863428del	GRCh37
NC_000002.10:g.55716930_55716932del	NCBI36
NG_033012.1:g.62620_62622del

Transcript Alleles

HGVS	Amino-acid Change
NM_033109.5:c.2298_2300del MANE Select	NP_149100.2:p.Arg766del
ENST00000447944.7:c.2298_2300del MANE Select	ENSP00000400646.2:p.Arg766del
NM_033109.4:c.2298_2300del	NP_149100.2:p.Arg766del
ENST00000260604.8:c.*1840_*1842del	ENSP00000260604.4:n.*1840_*1842del
ENST00000415374.5:c.2298_2300del	ENSP00000393953.1:p.Arg766del
ENST00000447944.6:c.2298_2300del	ENSP00000400646.2:p.Arg766del
XM_005264629.1:c.2058_2060del	XP_005264686.1:p.Arg686del
XM_005264629.2:c.2058_2060del	XP_005264686.1:p.Arg686del
XM_017005172.1:c.2058_2060del	XP_016860661.1:p.Arg686del