Canonical Allele Identifier: CA2622477980

Gene: PDX1 PLUT

Linked Data

• gnomAD v4: 13-27920264-CCCGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27920275_27920280del , CM000675.2:g.27920275_27920280del	GRCh38
NC_000013.10:g.28494412_28494417del , CM000675.1:g.28494412_28494417del	GRCh37
NC_000013.9:g.27392412_27392417del	NCBI36
NG_008183.1:g.5245_5250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.137_142del (PDX1) MANE Select	ENSP00000370421.4:p.Pro46_Pro47del
ENST00000381033.4:c.137_142del (PDX1)	ENSP00000370421.4:p.Pro46_Pro47del
NM_000209.3:c.137_142del (PDX1)	NP_000200.1:p.Pro46_Pro47del
NR_047484.1:n.241+894_241+899del (PLUT)
XR_941578.1:n.282_287del (PDX1)
XR_941579.1:n.282_287del (PDX1)
XR_941580.1:n.282_287del (PDX1)
XR_941578.2:n.294_299del (PDX1)
XR_941580.2:n.294_299del (PDX1)
NM_000209.4:c.137_142del (PDX1) MANE Select	NP_000200.1:p.Pro46_Pro47del