Canonical Allele Identifier: CA2622478302
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924623-GGGCCGCCTGCCGCCTGGCCTTAGCGCGTCGCCACAGCCCTCCAGCGTCGCGCCTCGGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924630_27924687del , CM000675.2:g.27924630_27924687del GRCh38
NC_000013.10:g.28498767_28498824del , CM000675.1:g.28498767_28498824del GRCh37
NC_000013.9:g.27396767_27396824del NCBI36
NG_008183.1:g.9600_9657del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.781_838del MANE Select ENSP00000370421.4:p.Leu261ArgfsTer26
ENST00000381033.4:c.781_838del ENSP00000370421.4:p.Leu261ArgfsTer26
NM_000209.3:c.781_838del NP_000200.1:p.Leu261ArgfsTer26
NM_000209.4:c.781_838del MANE Select NP_000200.1:p.Leu261ArgfsTer26
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Search 100 bp 3'