Canonical Allele Identifier: CA16617741

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 419024
• ClinVar RCV Id: RCV000478961
• dbSNP Id: rs1064793593
• MyVariant Identifiers: chr2:g.55894127_55894128del (hg19) ; chr2:g.55666992_55666993del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666995_55666996del , CM000664.2:g.55666995_55666996del	GRCh38
NC_000002.11:g.55894130_55894131del , CM000664.1:g.55894130_55894131del	GRCh37
NC_000002.10:g.55747634_55747635del	NCBI36
NG_033012.1:g.31918_31919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1174_1175del MANE Select	ENSP00000400646.2:p.Gln392GlyfsTer8
ENST00000260604.8:c.*729_*730del	ENSP00000260604.4:n.*729_*730del
ENST00000415374.5:c.1174_1175del	ENSP00000393953.1:p.Gln392GlyfsTer8
ENST00000415489.1:c.248_249del
ENST00000447944.6:c.1174_1175del	ENSP00000400646.2:p.Gln392GlyfsTer8
NM_033109.4:c.1174_1175del	NP_149100.2:p.Gln392GlyfsTer8
XM_005264629.1:c.934_935del	XP_005264686.1:p.Gln312GlyfsTer8
XM_011533142.1:c.1174_1175del	XP_011531444.1:p.Gln392GlyfsTer8
XM_005264629.2:c.934_935del	XP_005264686.1:p.Gln312GlyfsTer8
XM_017005172.1:c.934_935del	XP_016860661.1:p.Gln312GlyfsTer8
XR_001739010.1:n.1204_1205del
NM_033109.5:c.1174_1175del MANE Select	NP_149100.2:p.Gln392GlyfsTer8