Canonical Allele Identifier: CA1668441

Gene: PNPT1

Linked Data

• dbSNP Id: rs756324722
• ExAC: 2:55907964 AT / A
• gnomAD v2: 2-55907964-AT-A
• gnomAD v4: 2-55680829-AT-A
• MyVariant Identifiers: chr2:g.55907965del (hg19) ; chr2:g.55680830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680833del , CM000664.2:g.55680833del	GRCh38
NC_000002.11:g.55907968del , CM000664.1:g.55907968del	GRCh37
NC_000002.10:g.55761472del	NCBI36
NG_033012.1:g.18081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.517+25del MANE Select	ENSP00000400646.2:n.517+25del
ENST00000260604.8:c.*2del	ENSP00000260604.4:n.*2del
ENST00000415374.5:c.517+25del	ENSP00000393953.1:n.517+25del
ENST00000429805.1:c.*165+25del	ENSP00000411994.1:n.*165+25del
ENST00000447944.6:c.517+25del	ENSP00000400646.2:n.517+25del
NM_033109.4:c.517+25del	NP_149100.2:n.517+25del
XM_005264629.1:c.277+25del	XP_005264686.1:n.277+25del
XM_011533142.1:c.517+25del	XP_011531444.1:n.517+25del
XM_005264629.2:c.277+25del	XP_005264686.1:n.277+25del
XM_017005172.1:c.277+25del	XP_016860661.1:n.277+25del
XR_001739010.1:n.547+25del
NM_033109.5:c.517+25del MANE Select	NP_149100.2:n.517+25del