Canonical Allele Identifier: CA6927584

Gene: PDX1 PLUT

Linked Data

• ClinVar Variation Id: 2434641
• ClinVar RCV Id: RCV003142662 ; RCV003294641
• dbSNP Id: rs752633548
• ExAC: 13:28494401 C / CCCG
• gnomAD v2: 13-28494401-C-CCCG
• gnomAD v3: 13-27920264-C-CCCG
• gnomAD v4: 13-27920264-C-CCCG
• MyVariant Identifiers: chr13:g.28494404_28494405insCCG (hg19) ; chr13:g.28494401_28494402insCCG (hg19) ; chr13:g.27920264_27920265insCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27920278_27920280dup , CM000675.2:g.27920278_27920280dup	GRCh38
NC_000013.10:g.28494415_28494417dup , CM000675.1:g.28494415_28494417dup	GRCh37
NC_000013.9:g.27392415_27392417dup	NCBI36
NG_008183.1:g.5248_5250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.140_142dup (PDX1) MANE Select	ENSP00000370421.4:p.Pro47_His48insPro
ENST00000381033.4:c.140_142dup (PDX1)	ENSP00000370421.4:p.Pro47_His48insPro
NM_000209.3:c.140_142dup (PDX1)	NP_000200.1:p.Pro47_His48insPro
NR_047484.1:n.241+897_241+899dup (PLUT)
XR_941578.1:n.285_287dup (PDX1)
XR_941579.1:n.285_287dup (PDX1)
XR_941580.1:n.285_287dup (PDX1)
XR_941578.2:n.297_299dup (PDX1)
XR_941580.2:n.297_299dup (PDX1)
NM_000209.4:c.140_142dup (PDX1) MANE Select	NP_000200.1:p.Pro47_His48insPro