Canonical Allele Identifier: CA2622477982

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920326dup , CM000675.2:g.27920326dup GRCh38
NC_000013.10:g.28494463dup , CM000675.1:g.28494463dup GRCh37
NC_000013.9:g.27392463dup NCBI36
NG_008183.1:g.5296dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.188dup (PDX1) MANE Select ENSP00000370421.4:p.Asp64GlyfsTer?
ENST00000381033.4:c.188dup (PDX1) ENSP00000370421.4:p.Asp64GlyfsTer?
NM_000209.3:c.188dup (PDX1) NP_000200.1:p.Asp64GlyfsTer?
NR_047484.1:n.241+843dup (PLUT)
XR_941578.1:n.333dup (PDX1)
XR_941579.1:n.333dup (PDX1)
XR_941580.1:n.333dup (PDX1)
XR_941578.2:n.345dup (PDX1)
XR_941580.2:n.345dup (PDX1)
NM_000209.4:c.188dup (PDX1) MANE Select NP_000200.1:p.Asp64GlyfsTer?