Canonical Allele Identifier: CA2622478303

Gene: PDX1

Linked Data

• gnomAD v4: 13-27924624-GGCCGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27924633_27924639del , CM000675.2:g.27924633_27924639del	GRCh38
NC_000013.10:g.28498770_28498776del , CM000675.1:g.28498770_28498776del	GRCh37
NC_000013.9:g.27396770_27396776del	NCBI36
NG_008183.1:g.9603_9609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.784_790del MANE Select	ENSP00000370421.4:p.Pro262AlafsTer?
ENST00000381033.4:c.784_790del	ENSP00000370421.4:p.Pro262AlafsTer?
NM_000209.3:c.784_790del	NP_000200.1:p.Pro262AlafsTer?
NM_000209.4:c.784_790del MANE Select	NP_000200.1:p.Pro262AlafsTer?