Canonical Allele Identifier: CA593899336

Gene: SIRT1

Linked Data

• dbSNP Id: rs1005601641
• gnomAD v2: 10-69676659-ATTTTTT-A
• gnomAD v3: 10-67916902-ATTTTTT-A
• gnomAD v4: 10-67916902-ATTTTTT-A
• MyVariant Identifiers: chr10:g.69676660_69676665del (hg19) ; chr10:g.67916903_67916908del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67916905_67916910del , CM000672.2:g.67916905_67916910del	GRCh38
NC_000010.10:g.69676662_69676667del , CM000672.1:g.69676662_69676667del	GRCh37
NC_000010.9:g.69346668_69346673del	NCBI36
NG_050664.1:g.37244_37249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000212015.11:c.*312_*317del MANE Select	ENSP00000212015.6:n.*312_*317del
ENST00000212015.10:c.*312_*317del	ENSP00000212015.6:n.*312_*317del
ENST00000403579.1:c.*312_*317del	ENSP00000384063.1:n.*312_*317del
ENST00000406900.5:c.*312_*317del	ENSP00000384508.1:n.*312_*317del
ENST00000432464.5:c.*312_*317del	ENSP00000409208.1:n.*312_*317del
NM_001142498.1:c.*312_*317del	NP_001135970.1:n.*312_*317del
NM_001314049.1:c.*312_*317del	NP_001300978.1:n.*312_*317del
NM_012238.4:c.*312_*317del	NP_036370.2:n.*312_*317del
XM_006717737.2:c.*312_*317del	XP_006717800.1:n.*312_*317del
XM_011539561.1:c.*312_*317del	XP_011537863.1:n.*312_*317del
NM_012238.5:c.*312_*317del MANE Select	NP_036370.2:n.*312_*317del
NM_001142498.2:c.*312_*317del	NP_001135970.1:n.*312_*317del