Canonical Allele Identifier: CA2622477974

Gene: PDX1 PLUT

Linked Data

• gnomAD v4: 13-27920208-C-CCGGCGCCGGAGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27920210_27920222dup , CM000675.2:g.27920210_27920222dup	GRCh38
NC_000013.10:g.28494347_28494359dup , CM000675.1:g.28494347_28494359dup	GRCh37
NC_000013.9:g.27392347_27392359dup	NCBI36
NG_008183.1:g.5180_5192dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.72_84dup (PDX1) MANE Select	ENSP00000370421.4:p.Ser29GlyfsTer?
ENST00000381033.4:c.72_84dup (PDX1)	ENSP00000370421.4:p.Ser29GlyfsTer?
NM_000209.3:c.72_84dup (PDX1)	NP_000200.1:p.Ser29GlyfsTer?
NR_047484.1:n.241+943_241+955dup (PLUT)
XR_941578.1:n.217_229dup (PDX1)
XR_941579.1:n.217_229dup (PDX1)
XR_941580.1:n.217_229dup (PDX1)
XR_941578.2:n.229_241dup (PDX1)
XR_941580.2:n.229_241dup (PDX1)
NM_000209.4:c.72_84dup (PDX1) MANE Select	NP_000200.1:p.Ser29GlyfsTer?