Canonical Allele Identifier: CA2659132881
Gene: PNPT1 HGNC NCBI

Linked Data

gnomAD v4: 2-55666900-CAA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55666903_55666904del , CM000664.2:g.55666903_55666904del GRCh38
NC_000002.11:g.55894038_55894039del , CM000664.1:g.55894038_55894039del GRCh37
NC_000002.10:g.55747542_55747543del NCBI36
NG_033012.1:g.32009_32010del

Transcript Alleles

HGVS Amino-acid change
ENST00000447944.7:c.1176+89_1176+90del MANE Select ENSP00000400646.2:n.1176+89_1176+90del
ENST00000260604.8:c.*731+89_*731+90del ENSP00000260604.4:n.*731+89_*731+90del
ENST00000415374.5:c.1176+89_1176+90del ENSP00000393953.1:n.1176+89_1176+90del
ENST00000415489.1:c.250+89_250+90del
ENST00000447944.6:c.1176+89_1176+90del ENSP00000400646.2:n.1176+89_1176+90del
NM_033109.4:c.1176+89_1176+90del NP_149100.2:n.1176+89_1176+90del
XM_005264629.1:c.936+89_936+90del XP_005264686.1:n.936+89_936+90del
XM_011533142.1:c.1176+89_1176+90del XP_011531444.1:n.1176+89_1176+90del
XM_005264629.2:c.936+89_936+90del XP_005264686.1:n.936+89_936+90del
XM_017005172.1:c.936+89_936+90del XP_016860661.1:n.936+89_936+90del
XR_001739010.1:n.1206+89_1206+90del
NM_033109.5:c.1176+89_1176+90del MANE Select NP_149100.2:n.1176+89_1176+90del
Search 100 bp 5'
Search 100 bp 3'