Canonical Allele Identifier: CA995878663
Gene: AKT2 HGNC NCBI

Linked Data

gnomAD v3: 19-40285350-C-CGGGGGG
gnomAD v4: 19-40285350-C-CGGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40285350_40285351insGGGGGG , CM000681.2:g.40285350_40285351insGGGGGG GRCh38
NC_000019.9:g.40791257_40791258insGGGGGG , CM000681.1:g.40791257_40791258insGGGGGG GRCh37
NC_000019.8:g.45483097_45483098insGGGGGG NCBI36
NG_012038.2:g.5008_5009insCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000391844.8:c.-301_-300insCCCCCC ENSP00000375719.4:n.-301_-300insCCCCCC
ENST00000392038.6:c.-255_-254insCCCCCC ENSP00000375892.2:n.-255_-254insCCCCCC
ENST00000424901.5:c.-255_-254insCCCCCC ENSP00000399532.2:n.-255_-254insCCCCCC
ENST00000578123.5:c.-85+97_-85+98insCCCCCC ENSP00000462022.1:n.-85+97_-85+98insCCCCCC
NM_001243027.2:c.-404_-403insCCCCCC NP_001229956.1:n.-404_-403insCCCCCC
NM_001243028.2:c.-311_-310insCCCCCC NP_001229957.1:n.-311_-310insCCCCCC
NM_001626.5:c.-255_-254insCCCCCC NP_001617.1:n.-255_-254insCCCCCC
XM_011526620.1:c.-85+97_-85+98insCCCCCC XP_011524922.1:n.-85+97_-85+98insCCCCCC
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