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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:
CA645575869
Gene: PDX1
HGNC
NCBI
Linked Data
COSMIC:
COSM4566850
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.27924338_27924339delinsAA , CM000675.2:g.27924338_27924339delinsAA
GRCh38
NC_000013.10:g.28498475_28498476delinsAA , CM000675.1:g.28498475_28498476delinsAA
GRCh37
NC_000013.9:g.27396475_27396476delinsAA
NCBI36
NG_008183.1:g.9308_9309delinsAA
Transcript Alleles
HGVS
Amino-acid change
ENST00000381033.5:c.489_490delinsAA
MANE Select
ENSP00000370421.4:p.Glu164Lys
ENST00000381033.4:c.489_490delinsAA
ENSP00000370421.4:p.Glu164Lys
NM_000209.3:c.489_490delinsAA
NP_000200.1:p.Glu164Lys
NM_000209.4:c.489_490delinsAA
MANE Select
NP_000200.1:p.Glu164Lys
Search 100 bp 5'
Search 100 bp 3'