Canonical Allele Identifier: CA2577013762

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667007del , CM000664.2:g.55667007del	GRCh38
NC_000002.11:g.55894142del , CM000664.1:g.55894142del	GRCh37
NC_000002.10:g.55747646del	NCBI36
NG_033012.1:g.31906del

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1162del MANE Select	ENSP00000400646.2:p.Arg388GlufsTer15
ENST00000260604.8:c.*717del	ENSP00000260604.4:n.*717del
ENST00000415374.5:c.1162del	ENSP00000393953.1:p.Arg388GlufsTer15
ENST00000415489.1:c.236del
ENST00000447944.6:c.1162del	ENSP00000400646.2:p.Arg388GlufsTer15
NM_033109.4:c.1162del	NP_149100.2:p.Arg388GlufsTer15
XM_005264629.1:c.922del	XP_005264686.1:p.Arg308GlufsTer15
XM_011533142.1:c.1162del	XP_011531444.1:p.Arg388GlufsTer15
XM_005264629.2:c.922del	XP_005264686.1:p.Arg308GlufsTer15
XM_017005172.1:c.922del	XP_016860661.1:p.Arg308GlufsTer15
XR_001739010.1:n.1192del
NM_033109.5:c.1162del MANE Select	NP_149100.2:p.Arg388GlufsTer15