Canonical Allele Identifier: CA2580612791
Community Standard Title: NM_001382430.1(AKT1):c.547_549del (p.Lys183del)
Gene: AKT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104775097_104775099del , CM000676.2:g.104775097_104775099del GRCh38
NC_000014.8:g.105241434_105241436del , CM000676.1:g.105241434_105241436del GRCh37
NC_000014.7:g.104312479_104312481del NCBI36
NG_012188.1:g.25649_25651del , LRG_721:g.25649_25651del

Transcript Alleles

HGVS Amino-acid Change
NM_001382430.1:c.547_549del MANE Select NP_001369359.1:p.Lys183del
ENST00000649815.2:c.547_549del MANE Select ENSP00000497822.1:p.Lys183del
NM_001014431.1:c.547_549del NP_001014431.1:p.Lys183del
NM_001014431.2:c.547_549del NP_001014431.1:p.Lys183del
NM_001014432.1:c.547_549del , LRG_721t1:c.547_549del NP_001014432.1:p.Lys183del
NM_001014432.2:c.547_549del NP_001014432.1:p.Lys183del
NM_001382431.1:c.547_549del NP_001369360.1:p.Lys183del
NM_001382432.1:c.547_549del NP_001369361.1:p.Lys183del
NM_001382433.1:c.547_549del NP_001369362.1:p.Lys183del
NM_005163.2:c.547_549del , LRG_721t2:c.547_549del NP_005154.2:p.Lys183del
ENST00000349310.7:c.547_549del ENSP00000270202.4:p.Lys183del
ENST00000402615.6:c.547_549del ENSP00000385326.2:p.Lys183del
ENST00000407796.6:c.547_549del ENSP00000384293.2:p.Lys183del
ENST00000407796.7:c.547_549del ENSP00000384293.2:p.Lys183del
ENST00000544168.5:n.482_484del
ENST00000553797.2:c.547_549del ENSP00000507566.1:p.Lys183del
ENST00000554192.6:c.547_549del ENSP00000450681.3:p.Lys183del
ENST00000554581.5:c.547_549del ENSP00000451828.1:p.Lys183del
ENST00000554585.6:c.547_549del ENSP00000481526.2:p.Lys183del
ENST00000554826.1:n.296_298del
ENST00000554826.2:n.685_687del
ENST00000554848.5:c.547_549del ENSP00000451166.1:p.Lys183del
ENST00000555458.6:c.547_549del ENSP00000451470.3:p.Lys183del
ENST00000555528.5:c.547_549del ENSP00000450688.1:p.Lys183del
ENST00000556836.1:n.265_267del
ENST00000557552.1:n.3476_3478del
ENST00000610370.2:n.685_687del
ENST00000682269.1:n.1064_1066del
ENST00000683058.1:n.424_426del
ENST00000683722.1:c.547_549del ENSP00000507879.1:p.Lys183del
XM_005267401.1:c.547_549del XP_005267458.1:p.Lys183del
XM_011536543.1:c.547_549del XP_011534845.1:p.Lys183del
XM_011536544.1:c.547_549del XP_011534846.1:p.Lys183del
XR_002957536.1:n.747_749del