Canonical Allele Identifier: CA770355789

Gene: PNPT1

Linked Data

• dbSNP Id: rs1219164900
• MyVariant Identifiers: chr2:g.55899380del (hg19) ; chr2:g.55672245del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672247del , CM000664.2:g.55672247del	GRCh38
NC_000002.11:g.55899382del , CM000664.1:g.55899382del	GRCh37
NC_000002.10:g.55752886del	NCBI36
NG_033012.1:g.26666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-199del MANE Select	ENSP00000400646.2:n.867-199del
ENST00000260604.8:c.*422-199del	ENSP00000260604.4:n.*422-199del
ENST00000415374.5:c.867-199del	ENSP00000393953.1:n.867-199del
ENST00000447944.6:c.867-199del	ENSP00000400646.2:n.867-199del
NM_033109.4:c.867-199del	NP_149100.2:n.867-199del
XM_005264629.1:c.627-199del	XP_005264686.1:n.627-199del
XM_011533142.1:c.867-199del	XP_011531444.1:n.867-199del
XM_005264629.2:c.627-199del	XP_005264686.1:n.627-199del
XM_017005172.1:c.627-199del	XP_016860661.1:n.627-199del
XR_001739010.1:n.897-199del
NM_033109.5:c.867-199del MANE Select	NP_149100.2:n.867-199del