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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:
CA1468189720
Gene: AFP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.73455887_73455890delinsTAGG , CM000666.2:g.73455887_73455890delinsTAGG
GRCh38
NC_000004.11:g.74321604_74321607delinsTAGG , CM000666.1:g.74321604_74321607delinsTAGG
GRCh37
NC_000004.10:g.74540468_74540471delinsTAGG
NCBI36
NG_023028.1:g.24672_24675delinsTAGG
Transcript Alleles
HGVS
Amino-acid change
ENST00000395792.7:c.*267_*270delinsTAGG
MANE Select
ENSP00000379138.2:n.*267_*270delinsTAGG
ENST00000395792.6:c.*267_*270delinsTAGG
ENSP00000379138.2:n.*267_*270delinsTAGG
NM_001134.3:c.*267_*270delinsTAGG
MANE Select
NP_001125.1:n.*267_*270delinsTAGG
NM_001354717.2:c.*267_*270delinsTAGG
NP_001341646.2:n.*267_*270delinsTAGG
Search 100 bp 5'
Search 100 bp 3'