×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2585109049
Gene: AKT2
HGNC
NCBI
Linked Data
gnomAD v4:
19-40285468-TGAGA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40285472_40285475del , CM000681.2:g.40285472_40285475del
GRCh38
NC_000019.9:g.40791379_40791382del , CM000681.1:g.40791379_40791382del
GRCh37
NC_000019.8:g.45483219_45483222del
NCBI36
NG_012038.2:g.4887_4890del
Transcript Alleles
HGVS
Amino-acid change
ENST00000578123.5:c.-109_-106del
ENSP00000462022.1:n.-109_-106del
XM_011526620.1:c.-109_-106del
XP_011524922.1:n.-109_-106del
Search 100 bp 5'
Search 100 bp 3'