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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:
CA2689322406
Gene: CD274
HGNC
NCBI
Linked Data
gnomAD v4:
9-5468257-GT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.5468261del , CM000671.2:g.5468261del
GRCh38
NC_000009.11:g.5468261del , CM000671.1:g.5468261del
GRCh37
NC_000009.10:g.5458261del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000381577.4:c.*399del
MANE Select
ENSP00000370989.3:n.*399del
ENST00000381573.8:c.*399del
ENSP00000370985.4:n.*399del
ENST00000381577.3:c.*399del
ENSP00000370989.3:n.*399del
NM_001267706.1:c.*399del
NP_001254635.1:n.*399del
NM_014143.3:c.*399del
NP_054862.1:n.*399del
NR_052005.1:n.1207del
NM_014143.4:c.*399del
MANE Select
NP_054862.1:n.*399del
NR_052005.2:n.1168del
NM_001267706.2:c.*399del
NP_001254635.1:n.*399del
Search 100 bp 5'
Search 100 bp 3'