Canonical Allele Identifier: CA247262948
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI

Linked Data

dbSNP Id: rs752633548
gnomAD v2: 13-28494401-C-CCCGCCG
gnomAD v3: 13-27920264-C-CCCGCCG
gnomAD v4: 13-27920264-C-CCCGCCG
MyVariant Identifiers: chr13:g.28494404_28494405insCCGCCG (hg19) chr13:g.28494401_28494402insCCGCCG (hg19) chr13:g.27920267_27920268insCCGCCG (hg38) chr13:g.27920264_27920265insCCGCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920275_27920280dup , CM000675.2:g.27920275_27920280dup GRCh38
NC_000013.10:g.28494412_28494417dup , CM000675.1:g.28494412_28494417dup GRCh37
NC_000013.9:g.27392412_27392417dup NCBI36
NG_008183.1:g.5245_5250dup

Transcript Alleles

HGVS Amino-acid change
ENST00000381033.5:c.137_142dup (PDX1) MANE Select ENSP00000370421.4:p.Pro47_His48insProPro
ENST00000381033.4:c.137_142dup (PDX1) ENSP00000370421.4:p.Pro47_His48insProPro
NM_000209.3:c.137_142dup (PDX1) NP_000200.1:p.Pro47_His48insProPro
NR_047484.1:n.241+894_241+899dup (PLUT)
XR_941578.1:n.282_287dup (PDX1)
XR_941579.1:n.282_287dup (PDX1)
XR_941580.1:n.282_287dup (PDX1)
XR_941578.2:n.294_299dup (PDX1)
XR_941580.2:n.294_299dup (PDX1)
NM_000209.4:c.137_142dup (PDX1) MANE Select NP_000200.1:p.Pro47_His48insProPro
Search 100 bp 5'
Search 100 bp 3'