Canonical Allele Identifier: CA697009589
Gene: PDX1 HGNC NCBI

Linked Data

dbSNP Id: rs1269785084
gnomAD v3: 13-27924699-TGA-T
gnomAD v4: 13-27924699-TGA-T
MyVariant Identifiers: chr13:g.28498837_28498838del (hg19) chr13:g.27924700_27924701del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924703_27924704del , CM000675.2:g.27924703_27924704del GRCh38
NC_000013.10:g.28498840_28498841del , CM000675.1:g.28498840_28498841del GRCh37
NC_000013.9:g.27396840_27396841del NCBI36
NG_008183.1:g.9673_9674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*2_*3del MANE Select ENSP00000370421.4:n.*2_*3del
ENST00000381033.4:c.*2_*3del ENSP00000370421.4:n.*2_*3del
NM_000209.3:c.*2_*3del NP_000200.1:n.*2_*3del
NM_000209.4:c.*2_*3del MANE Select NP_000200.1:n.*2_*3del
Search 100 bp 5'
Search 100 bp 3'