Canonical Allele Identifier: CA2580617724

Gene: PDX1

Linked Data

• ClinVar Variation Id: 2578231
• ClinVar RCV Id: RCV003325830

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924556del , CM000675.2:g.27924556del	GRCh38
NC_000013.10:g.28498693del , CM000675.1:g.28498693del	GRCh37
NC_000013.9:g.27396693del	NCBI36
NG_008183.1:g.9526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.707del MANE Select	ENSP00000370421.4:p.Leu236ArgfsTer?
ENST00000381033.4:c.707del	ENSP00000370421.4:p.Leu236ArgfsTer?
NM_000209.3:c.707del	NP_000200.1:p.Leu236ArgfsTer?
NM_000209.4:c.707del MANE Select	NP_000200.1:p.Leu236ArgfsTer?