Canonical Allele Identifier: CA2580614637
Gene: PDX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2504962
ClinVar RCV Id: RCV003233142
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924543_27924546delinsAGCT , CM000675.2:g.27924543_27924546delinsAGCT GRCh38
NC_000013.10:g.28498680_28498683delinsAGCT , CM000675.1:g.28498680_28498683delinsAGCT GRCh37
NC_000013.9:g.27396680_27396683delinsAGCT NCBI36
NG_008183.1:g.9513_9516delinsAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.694_697delinsAGCT MANE Select ENSP00000370421.4:p.Gly232SerfsTer2
ENST00000381033.4:c.694_697delinsAGCT ENSP00000370421.4:p.Gly232SerfsTer2
NM_000209.3:c.694_697delinsAGCT NP_000200.1:p.Gly232SerfsTer2
NM_000209.4:c.694_697delinsAGCT MANE Select NP_000200.1:p.Gly232SerfsTer2
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