Canonical Allele Identifier: CA2622478621
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924810-CGGCAATTGCGGGGCCCACCTTA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924812_27924833del , CM000675.2:g.27924812_27924833del GRCh38
NC_000013.10:g.28498949_28498970del , CM000675.1:g.28498949_28498970del GRCh37
NC_000013.9:g.27396949_27396970del NCBI36
NG_008183.1:g.9782_9803del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*111_*132del MANE Select ENSP00000370421.4:n.*111_*132del
ENST00000381033.4:c.*111_*132del ENSP00000370421.4:n.*111_*132del
NM_000209.3:c.*111_*132del NP_000200.1:n.*111_*132del
NM_000209.4:c.*111_*132del MANE Select NP_000200.1:n.*111_*132del
Search 100 bp 5'
Search 100 bp 3'