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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2080721238
Gene: PDX1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.27924350_27924351delinsCA , CM000675.2:g.27924350_27924351delinsCA
GRCh38
NC_000013.10:g.28498487_28498488delinsCA , CM000675.1:g.28498487_28498488delinsCA
GRCh37
NC_000013.9:g.27396487_27396488delinsCA
NCBI36
NG_008183.1:g.9320_9321delinsCA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000381033.5:c.501_502delinsCA
MANE Select
ENSP00000370421.4:p.Phe167=
ENST00000381033.4:c.501_502delinsCA
ENSP00000370421.4:p.Phe167=
NM_000209.3:c.501_502delinsCA
NP_000200.1:p.Phe167=
NM_000209.4:c.501_502delinsCA
MANE Select
NP_000200.1:p.Phe167=
Search 100 bp 5'
Search 100 bp 3'