Canonical Allele Identifier: CA532795584

Gene: PNPT1

Linked Data

• dbSNP Id: rs1374479335
• gnomAD v2: 2-55899605-CAAATA-C
• gnomAD v3: 2-55672470-CAAATA-C
• gnomAD v4: 2-55672470-CAAATA-C
• MyVariant Identifiers: chr2:g.55899606_55899610del (hg19) ; chr2:g.55672471_55672475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672477_55672481del , CM000664.2:g.55672477_55672481del	GRCh38
NC_000002.11:g.55899612_55899616del , CM000664.1:g.55899612_55899616del	GRCh37
NC_000002.10:g.55753116_55753120del	NCBI36
NG_033012.1:g.26436_26440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.866+418_866+422del MANE Select	ENSP00000400646.2:n.866+418_866+422del
ENST00000260604.8:c.*421+418_*421+422del	ENSP00000260604.4:n.*421+418_*421+422del
ENST00000415374.5:c.866+418_866+422del	ENSP00000393953.1:n.866+418_866+422del
ENST00000447944.6:c.866+418_866+422del	ENSP00000400646.2:n.866+418_866+422del
NM_033109.4:c.866+418_866+422del	NP_149100.2:n.866+418_866+422del
XM_005264629.1:c.626+418_626+422del	XP_005264686.1:n.626+418_626+422del
XM_011533142.1:c.866+418_866+422del	XP_011531444.1:n.866+418_866+422del
XM_005264629.2:c.626+418_626+422del	XP_005264686.1:n.626+418_626+422del
XM_017005172.1:c.626+418_626+422del	XP_016860661.1:n.626+418_626+422del
XR_001739010.1:n.896+418_896+422del
NM_033109.5:c.866+418_866+422del MANE Select	NP_149100.2:n.866+418_866+422del