Canonical Allele Identifier: CA882232866
Gene: AKT2 HGNC NCBI

Linked Data

dbSNP Id: rs1407381038
gnomAD v3: 19-40285352-C-CCCCCCGCCCCCTCCCCCCAG
gnomAD v4: 19-40285352-C-CCCCCCGCCCCCTCCCCCCAG
MyVariant Identifiers: chr19:g.40791259_40791260insCCCCCGCCCCCTCCCCCCAG (hg19) chr19:g.40285352_40285353insCCCCCGCCCCCTCCCCCCAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40285360_40285379dup , CM000681.2:g.40285360_40285379dup GRCh38
NC_000019.9:g.40791267_40791286dup , CM000681.1:g.40791267_40791286dup GRCh37
NC_000019.8:g.45483107_45483126dup NCBI36
NG_012038.2:g.4987_5006dup

Transcript Alleles

HGVS Amino-acid change
ENST00000392038.6:c.-276_-257dup ENSP00000375892.2:n.-276_-257dup
ENST00000424901.5:c.-276_-257dup ENSP00000399532.2:n.-276_-257dup
ENST00000578123.5:c.-85+76_-85+95dup ENSP00000462022.1:n.-85+76_-85+95dup
NM_001243027.2:c.-425_-406dup NP_001229956.1:n.-425_-406dup
NM_001243028.2:c.-332_-313dup NP_001229957.1:n.-332_-313dup
NM_001626.5:c.-276_-257dup NP_001617.1:n.-276_-257dup
XM_011526620.1:c.-85+76_-85+95dup XP_011524922.1:n.-85+76_-85+95dup
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