Canonical Allele Identifier: CA1030925979

Gene: PNPT1

Linked Data

• dbSNP Id: rs1697223677
• gnomAD v3: 2-55680768-AGG-A
• gnomAD v4: 2-55680768-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680769_55680770del , CM000664.2:g.55680769_55680770del	GRCh38
NC_000002.11:g.55907904_55907905del , CM000664.1:g.55907904_55907905del	GRCh37
NC_000002.10:g.55761408_55761409del	NCBI36
NG_033012.1:g.18141_18142del

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.518-11_518-10del MANE Select	ENSP00000400646.2:n.518-11_518-10del
ENST00000260604.8:c.*62_*63del	ENSP00000260604.4:n.*62_*63del
ENST00000415374.5:c.518-11_518-10del	ENSP00000393953.1:n.518-11_518-10del
ENST00000429805.1:c.*166-11_*166-10del	ENSP00000411994.1:n.*166-11_*166-10del
ENST00000447944.6:c.518-11_518-10del	ENSP00000400646.2:n.518-11_518-10del
NM_033109.4:c.518-11_518-10del	NP_149100.2:n.518-11_518-10del
XM_005264629.1:c.278-11_278-10del	XP_005264686.1:n.278-11_278-10del
XM_011533142.1:c.518-11_518-10del	XP_011531444.1:n.518-11_518-10del
XM_005264629.2:c.278-11_278-10del	XP_005264686.1:n.278-11_278-10del
XM_017005172.1:c.278-11_278-10del	XP_016860661.1:n.278-11_278-10del
XR_001739010.1:n.548-11_548-10del
NM_033109.5:c.518-11_518-10del MANE Select	NP_149100.2:n.518-11_518-10del