Canonical Allele Identifier: CA2080721215
Gene: PDX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924293_27924310delinsGACGCGCACGGCCTACAC , CM000675.2:g.27924293_27924310delinsGACGCGCACGGCCTACAC GRCh38
NC_000013.10:g.28498430_28498447delinsGACGCGCACGGCCTACAC , CM000675.1:g.28498430_28498447delinsGACGCGCACGGCCTACAC GRCh37
NC_000013.9:g.27396430_27396447delinsGACGCGCACGGCCTACAC NCBI36
NG_008183.1:g.9263_9280delinsGACGCGCACGGCCTACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.444_461delinsGACGCGCACGGCCTACAC MANE Select ENSP00000370421.4:p.Arg148=
ENST00000381033.4:c.444_461delinsGACGCGCACGGCCTACAC ENSP00000370421.4:p.Arg148=
NM_000209.3:c.444_461delinsGACGCGCACGGCCTACAC NP_000200.1:p.Arg148=
XR_941579.1:n.2170_2187delinsGACGCGCACGGCCTACAC
XR_941580.1:n.1086_1103delinsGACGCGCACGGCCTACAC
XR_941580.2:n.1098_1115delinsGACGCGCACGGCCTACAC
NM_000209.4:c.444_461delinsGACGCGCACGGCCTACAC MANE Select NP_000200.1:p.Arg148=