Canonical Allele Identifier: CA770362832
Gene: PNPT1 HGNC NCBI

Linked Data

dbSNP Id: rs1351636641
gnomAD v4: 2-55680807-TA-T
MyVariant Identifiers: chr2:g.55907943del (hg19) chr2:g.55680808del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55680814del , CM000664.2:g.55680814del GRCh38
NC_000002.11:g.55907949del , CM000664.1:g.55907949del GRCh37
NC_000002.10:g.55761453del NCBI36
NG_033012.1:g.18103del

Transcript Alleles

HGVS Amino-acid change
ENST00000447944.7:c.517+47del MANE Select ENSP00000400646.2:n.517+47del
ENST00000260604.8:c.*24del ENSP00000260604.4:n.*24del
ENST00000415374.5:c.517+47del ENSP00000393953.1:n.517+47del
ENST00000429805.1:c.*165+47del ENSP00000411994.1:n.*165+47del
ENST00000447944.6:c.517+47del ENSP00000400646.2:n.517+47del
NM_033109.4:c.517+47del NP_149100.2:n.517+47del
XM_005264629.1:c.277+47del XP_005264686.1:n.277+47del
XM_011533142.1:c.517+47del XP_011531444.1:n.517+47del
XM_005264629.2:c.277+47del XP_005264686.1:n.277+47del
XM_017005172.1:c.277+47del XP_016860661.1:n.277+47del
XR_001739010.1:n.547+47del
NM_033109.5:c.517+47del MANE Select NP_149100.2:n.517+47del
Search 100 bp 5'
Search 100 bp 3'