Canonical Allele Identifier: CA2622478636
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924823-GCCCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924826_27924829del , CM000675.2:g.27924826_27924829del GRCh38
NC_000013.10:g.28498963_28498966del , CM000675.1:g.28498963_28498966del GRCh37
NC_000013.9:g.27396963_27396966del NCBI36
NG_008183.1:g.9796_9799del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*125_*128del MANE Select ENSP00000370421.4:n.*125_*128del
ENST00000381033.4:c.*125_*128del ENSP00000370421.4:n.*125_*128del
NM_000209.3:c.*125_*128del NP_000200.1:n.*125_*128del
NM_000209.4:c.*125_*128del MANE Select NP_000200.1:n.*125_*128del
Search 100 bp 5'
Search 100 bp 3'