Canonical Allele Identifier: CA2659133818

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55672126-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672129del , CM000664.2:g.55672129del	GRCh38
NC_000002.11:g.55899264del , CM000664.1:g.55899264del	GRCh37
NC_000002.10:g.55752768del	NCBI36
NG_033012.1:g.26784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-81del MANE Select	ENSP00000400646.2:n.867-81del
ENST00000260604.8:c.*422-81del	ENSP00000260604.4:n.*422-81del
ENST00000415374.5:c.867-81del	ENSP00000393953.1:n.867-81del
ENST00000447944.6:c.867-81del	ENSP00000400646.2:n.867-81del
NM_033109.4:c.867-81del	NP_149100.2:n.867-81del
XM_005264629.1:c.627-81del	XP_005264686.1:n.627-81del
XM_011533142.1:c.867-81del	XP_011531444.1:n.867-81del
XM_005264629.2:c.627-81del	XP_005264686.1:n.627-81del
XM_017005172.1:c.627-81del	XP_016860661.1:n.627-81del
XR_001739010.1:n.897-81del
NM_033109.5:c.867-81del MANE Select	NP_149100.2:n.867-81del