Canonical Allele Identifier: CA2659134366
Gene: PNPT1 HGNC NCBI

Linked Data

gnomAD v4: 2-55680807-T-TA
JSON-LD

Genomic Alleles

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

Transcript Alleles

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