Canonical Allele Identifier: CA2622478658
Gene: PDX1 HGNC NCBI

Linked Data

gnomAD v4: 13-27924843-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27924847del , CM000675.2:g.27924847del GRCh38
NC_000013.10:g.28498984del , CM000675.1:g.28498984del GRCh37
NC_000013.9:g.27396984del NCBI36
NG_008183.1:g.9817del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.*146del MANE Select ENSP00000370421.4:n.*146del
ENST00000381033.4:c.*146del ENSP00000370421.4:n.*146del
NM_000209.3:c.*146del NP_000200.1:n.*146del
NM_000209.4:c.*146del MANE Select NP_000200.1:n.*146del
Search 100 bp 5'
Search 100 bp 3'