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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
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Canonical Allele Identifier:
CA2335910154
Gene: AKT2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40285479_40285480delinsGA , CM000681.2:g.40285479_40285480delinsGA
GRCh38
NC_000019.9:g.40791386_40791387delinsGA , CM000681.1:g.40791386_40791387delinsGA
GRCh37
NC_000019.8:g.45483226_45483227delinsGA
NCBI36
NG_012038.2:g.4879_4880delinsTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000578123.5:c.-117_-116delinsTC
ENSP00000462022.1:n.-117_-116delinsTC
XM_011526620.1:c.-117_-116delinsTC
XP_011524922.1:n.-117_-116delinsTC
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