Canonical Allele Identifier: CA1030926067

Gene: PNPT1

Linked Data

• dbSNP Id: rs1697229752
• gnomAD v3: 2-55681017-TG-T
• gnomAD v4: 2-55681017-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55681018del , CM000664.2:g.55681018del	GRCh38
NC_000002.11:g.55908153del , CM000664.1:g.55908153del	GRCh37
NC_000002.10:g.55761657del	NCBI36
NG_033012.1:g.17893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.454-100del MANE Select	ENSP00000400646.2:n.454-100del
ENST00000260604.8:c.454-100del	ENSP00000260604.4:n.454-100del
ENST00000415374.5:c.454-100del	ENSP00000393953.1:n.454-100del
ENST00000429805.1:c.*102-100del	ENSP00000411994.1:n.*102-100del
ENST00000447944.6:c.454-100del	ENSP00000400646.2:n.454-100del
NM_033109.4:c.454-100del	NP_149100.2:n.454-100del
XM_005264629.1:c.214-100del	XP_005264686.1:n.214-100del
XM_011533142.1:c.454-100del	XP_011531444.1:n.454-100del
XM_005264629.2:c.214-100del	XP_005264686.1:n.214-100del
XM_017005172.1:c.214-100del	XP_016860661.1:n.214-100del
XR_001739010.1:n.484-100del
NM_033109.5:c.454-100del MANE Select	NP_149100.2:n.454-100del