Canonical Allele Identifier: CA426175439

Gene: PNPT1

Linked Data

• dbSNP Id: rs1697223325
• gnomAD v4: 2-55680760-CT-C
• MyVariant Identifiers: chr2:g.55907896del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680762del , CM000664.2:g.55680762del	GRCh38
NC_000002.11:g.55907897del , CM000664.1:g.55907897del	GRCh37
NC_000002.10:g.55761401del	NCBI36
NG_033012.1:g.18150del

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.518-2del MANE Select	ENSP00000400646.2:n.518-2del
ENST00000260604.8:c.*71del	ENSP00000260604.4:n.*71del
ENST00000415374.5:c.518-2del	ENSP00000393953.1:n.518-2del
ENST00000429805.1:c.*166-2del	ENSP00000411994.1:n.*166-2del
ENST00000447944.6:c.518-2del	ENSP00000400646.2:n.518-2del
NM_033109.4:c.518-2del	NP_149100.2:n.518-2del
XM_005264629.1:c.278-2del	XP_005264686.1:n.278-2del
XM_011533142.1:c.518-2del	XP_011531444.1:n.518-2del
XM_005264629.2:c.278-2del	XP_005264686.1:n.278-2del
XM_017005172.1:c.278-2del	XP_016860661.1:n.278-2del
XR_001739010.1:n.548-2del
NM_033109.5:c.518-2del MANE Select	NP_149100.2:n.518-2del