Canonical Allele Identifier: CA2622477977
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI

Linked Data

gnomAD v4: 13-27920251-TGGGCCGCCAGCCCCCGCCGCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920253_27920273del , CM000675.2:g.27920253_27920273del GRCh38
NC_000013.10:g.28494390_28494410del , CM000675.1:g.28494390_28494410del GRCh37
NC_000013.9:g.27392390_27392410del NCBI36
NG_008183.1:g.5223_5243del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.115_135del (PDX1) MANE Select ENSP00000370421.4:p.Gly39_Pro45del
ENST00000381033.4:c.115_135del (PDX1) ENSP00000370421.4:p.Gly39_Pro45del
NM_000209.3:c.115_135del (PDX1) NP_000200.1:p.Gly39_Pro45del
NR_047484.1:n.241+892_241+912del (PLUT)
XR_941578.1:n.260_280del (PDX1)
XR_941579.1:n.260_280del (PDX1)
XR_941580.1:n.260_280del (PDX1)
XR_941578.2:n.272_292del (PDX1)
XR_941580.2:n.272_292del (PDX1)
NM_000209.4:c.115_135del (PDX1) MANE Select NP_000200.1:p.Gly39_Pro45del
Search 100 bp 5'
Search 100 bp 3'