Canonical Allele Identifier: CA2622477979
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI

Linked Data

gnomAD v4: 13-27920261-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920266del , CM000675.2:g.27920266del GRCh38
NC_000013.10:g.28494403del , CM000675.1:g.28494403del GRCh37
NC_000013.9:g.27392403del NCBI36
NG_008183.1:g.5236del

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.128del (PDX1) MANE Select ENSP00000370421.4:p.Pro43ArgfsTer?
ENST00000381033.4:c.128del (PDX1) ENSP00000370421.4:p.Pro43ArgfsTer?
NM_000209.3:c.128del (PDX1) NP_000200.1:p.Pro43ArgfsTer?
NR_047484.1:n.241+902del (PLUT)
XR_941578.1:n.273del (PDX1)
XR_941579.1:n.273del (PDX1)
XR_941580.1:n.273del (PDX1)
XR_941578.2:n.285del (PDX1)
XR_941580.2:n.285del (PDX1)
NM_000209.4:c.128del (PDX1) MANE Select NP_000200.1:p.Pro43ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'