Canonical Allele Identifier: CA5521203
Gene: SIRT1 HGNC NCBI
gnomAD v2:
10:69667779 C / CATAT
gnomAD v3:
10:67908022 C / CATAT
gnomAD v4:
chr10-67908022-C-CATAT
Joint Max Group AF 0.0001763 (NFE)
Genomes Max Group AF 0.00018205 (NFE)
Exomes Max Group AF 0.00017075 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67908027_67908030dup , CM000672.2:g.67908027_67908030dup GRCh38
NC_000010.10:g.69667784_69667787dup , CM000672.1:g.69667784_69667787dup GRCh37
NC_000010.9:g.69337790_69337793dup NCBI36
NG_050664.1:g.28366_28369dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000212015.11:c.1091-19_1091-16dup MANE Select ENSP00000212015.6:n.1091-19_1091-16dup
ENST00000212015.10:c.1091-19_1091-16dup ENSP00000212015.6:n.1091-19_1091-16dup
ENST00000403579.1:c.182-19_182-16dup ENSP00000384063.1:n.182-19_182-16dup
ENST00000406900.5:c.182-19_182-16dup ENSP00000384508.1:n.182-19_182-16dup
ENST00000432464.5:c.206-19_206-16dup ENSP00000409208.1:n.206-19_206-16dup
NM_001142498.1:c.206-19_206-16dup NP_001135970.1:n.206-19_206-16dup
NM_001314049.1:c.182-19_182-16dup NP_001300978.1:n.182-19_182-16dup
NM_012238.4:c.1091-19_1091-16dup NP_036370.2:n.1091-19_1091-16dup
XM_006717737.2:c.938-19_938-16dup XP_006717800.1:n.938-19_938-16dup
XM_011539561.1:c.515-19_515-16dup XP_011537863.1:n.515-19_515-16dup
NM_012238.5:c.1091-19_1091-16dup MANE Select NP_036370.2:n.1091-19_1091-16dup
NM_001142498.2:c.206-19_206-16dup NP_001135970.1:n.206-19_206-16dup
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