Canonical Allele Identifier: CA2659134350
Gene: PNPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55680761_55680855del , CM000664.2:g.55680761_55680855del GRCh38
NC_000002.11:g.55907896_55907990del , CM000664.1:g.55907896_55907990del GRCh37
NC_000002.10:g.55761400_55761494del NCBI36
NG_033012.1:g.18057_18151del

Transcript Alleles

HGVS Amino-acid change
ENST00000447944.7:c.517+1_518-1del
ENST00000260604.8:c.518_*72del ENSP00000260604.4:n.[c.518_*72del;Gly173A...
ENST00000415374.5:c.517+1_518-1del
ENST00000429805.1:c.*165+1_*166-1del
ENST00000447944.6:c.517+1_518-1del
NM_033109.4:c.517+1_518-1del
XM_005264629.1:c.277+1_278-1del
XM_011533142.1:c.517+1_518-1del
XM_005264629.2:c.277+1_278-1del
XM_017005172.1:c.277+1_278-1del
XR_001739010.1:n.547+1_548-1del
NM_033109.5:c.517+1_518-1del