Canonical Allele Identifier: CA6927665

Gene: PDX1

Linked Data

• dbSNP Id: rs768856218
• ExAC: 13:28498414 CGGA / C
• gnomAD v2: 13-28498414-CGGA-C
• gnomAD v3: 13-27924277-CGGA-C
• gnomAD v4: 13-27924277-CGGA-C
• MyVariant Identifiers: chr13:g.28498415_28498417del (hg19) ; chr13:g.27924278_27924280del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924282_27924284del , CM000675.2:g.27924282_27924284del	GRCh38
NC_000013.10:g.28498419_28498421del , CM000675.1:g.28498419_28498421del	GRCh37
NC_000013.9:g.27396419_27396421del	NCBI36
NG_008183.1:g.9252_9254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.433_435del MANE Select	ENSP00000370421.4:p.Glu145del
ENST00000381033.4:c.433_435del	ENSP00000370421.4:p.Glu145del
NM_000209.3:c.433_435del	NP_000200.1:p.Glu145del
XR_941578.1:n.3560_3562del
XR_941579.1:n.2159_2161del
XR_941580.1:n.1075_1077del
XR_941578.2:n.3572_3574del
XR_941580.2:n.1087_1089del
NM_000209.4:c.433_435del MANE Select	NP_000200.1:p.Glu145del