Canonical Allele Identifier: CA633110979
Gene: AKT2 HGNC NCBI

Linked Data

gnomAD v2: 19-40791279-G-GCCCCC
gnomAD v3: 19-40285372-G-GCCCCC
gnomAD v4: 19-40285372-G-GCCCCC
MyVariant Identifiers: chr19:g.40791279_40791280insCCCCC (hg19) chr19:g.40285372_40285373insCCCCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40285373_40285377dup , CM000681.2:g.40285373_40285377dup GRCh38
NC_000019.9:g.40791280_40791284dup , CM000681.1:g.40791280_40791284dup GRCh37
NC_000019.8:g.45483120_45483124dup NCBI36
NG_012038.2:g.4982_4986dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000392038.6:c.-281_-277dup ENSP00000375892.2:n.-281_-277dup
ENST00000424901.5:c.-281_-277dup ENSP00000399532.2:n.-281_-277dup
ENST00000578123.5:c.-85+71_-85+75dup ENSP00000462022.1:n.-85+71_-85+75dup
NM_001243027.2:c.-430_-426dup NP_001229956.1:n.-430_-426dup
NM_001243028.2:c.-337_-333dup NP_001229957.1:n.-337_-333dup
NM_001626.5:c.-281_-277dup NP_001617.1:n.-281_-277dup
XM_011526620.1:c.-85+71_-85+75dup XP_011524922.1:n.-85+71_-85+75dup
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