Canonical Allele Identifier: CA2609362347
Gene: SIRT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67916909_67916910del , CM000672.2:g.67916909_67916910del GRCh38
NC_000010.10:g.69676666_69676667del , CM000672.1:g.69676666_69676667del GRCh37
NC_000010.9:g.69346672_69346673del NCBI36
NG_050664.1:g.37248_37249del

Transcript Alleles

HGVS Amino-acid Change
ENST00000212015.11:c.*316_*317del MANE Select ENSP00000212015.6:n.*316_*317del
ENST00000212015.10:c.*316_*317del ENSP00000212015.6:n.*316_*317del
ENST00000403579.1:c.*316_*317del ENSP00000384063.1:n.*316_*317del
ENST00000406900.5:c.*316_*317del ENSP00000384508.1:n.*316_*317del
ENST00000432464.5:c.*316_*317del ENSP00000409208.1:n.*316_*317del
NM_001142498.1:c.*316_*317del NP_001135970.1:n.*316_*317del
NM_001314049.1:c.*316_*317del NP_001300978.1:n.*316_*317del
NM_012238.4:c.*316_*317del NP_036370.2:n.*316_*317del
XM_006717737.2:c.*316_*317del XP_006717800.1:n.*316_*317del
XM_011539561.1:c.*316_*317del XP_011537863.1:n.*316_*317del
NM_012238.5:c.*316_*317del MANE Select NP_036370.2:n.*316_*317del
NM_001142498.2:c.*316_*317del NP_001135970.1:n.*316_*317del