Canonical Allele Identifier: CA1252401192

Gene: PNPT1

Linked Data

• dbSNP Id: rs1696940026

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672291_55672293del , CM000664.2:g.55672291_55672293del	GRCh38
NC_000002.11:g.55899426_55899428del , CM000664.1:g.55899426_55899428del	GRCh37
NC_000002.10:g.55752930_55752932del	NCBI36
NG_033012.1:g.26623_26625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-242_867-240del MANE Select	ENSP00000400646.2:n.867-242_867-240del
ENST00000260604.8:c.*422-242_*422-240del	ENSP00000260604.4:n.*422-242_*422-240del
ENST00000415374.5:c.867-242_867-240del	ENSP00000393953.1:n.867-242_867-240del
ENST00000447944.6:c.867-242_867-240del	ENSP00000400646.2:n.867-242_867-240del
NM_033109.4:c.867-242_867-240del	NP_149100.2:n.867-242_867-240del
XM_005264629.1:c.627-242_627-240del	XP_005264686.1:n.627-242_627-240del
XM_011533142.1:c.867-242_867-240del	XP_011531444.1:n.867-242_867-240del
XM_005264629.2:c.627-242_627-240del	XP_005264686.1:n.627-242_627-240del
XM_017005172.1:c.627-242_627-240del	XP_016860661.1:n.627-242_627-240del
XR_001739010.1:n.897-242_897-240del
NM_033109.5:c.867-242_867-240del MANE Select	NP_149100.2:n.867-242_867-240del