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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:
CA2574249219
Gene: CDA
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.20618479_20618483del , CM000663.2:g.20618479_20618483del
GRCh38
NC_000001.10:g.20944972_20944976del , CM000663.1:g.20944972_20944976del
GRCh37
NC_000001.9:g.20817559_20817563del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000375071.4:c.352_356del
MANE Select
ENSP00000364212.3:p.Thr118AlafsTer21
ENST00000375071.3:c.352_356del
ENSP00000364212.3:p.Thr118AlafsTer21
ENST00000461985.1:n.338_342del
NM_001785.2:c.352_356del
NP_001776.1:p.Thr118AlafsTer21
NM_001785.3:c.352_356del
MANE Select
NP_001776.1:p.Thr118AlafsTer21
Search 100 bp 5'
Search 100 bp 3'