Canonical Allele Identifier: CA2609361421
Community Standard Title: NM_012238.5(SIRT1):c.1091-17_1091-16del
Gene: SIRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67908029_67908030del , CM000672.2:g.67908029_67908030del GRCh38
NC_000010.10:g.69667786_69667787del , CM000672.1:g.69667786_69667787del GRCh37
NC_000010.9:g.69337792_69337793del NCBI36
NG_050664.1:g.28368_28369del

Transcript Alleles

HGVS Amino-acid Change
NM_012238.5:c.1091-17_1091-16del MANE Select NP_036370.2:n.1091-17_1091-16del
ENST00000212015.11:c.1091-17_1091-16del MANE Select ENSP00000212015.6:n.1091-17_1091-16del
NM_001142498.1:c.206-17_206-16del NP_001135970.1:n.206-17_206-16del
NM_001142498.2:c.206-17_206-16del NP_001135970.1:n.206-17_206-16del
NM_001314049.1:c.182-17_182-16del NP_001300978.1:n.182-17_182-16del
NM_012238.4:c.1091-17_1091-16del NP_036370.2:n.1091-17_1091-16del
ENST00000212015.10:c.1091-17_1091-16del ENSP00000212015.6:n.1091-17_1091-16del
ENST00000403579.1:c.182-17_182-16del ENSP00000384063.1:n.182-17_182-16del
ENST00000406900.5:c.182-17_182-16del ENSP00000384508.1:n.182-17_182-16del
ENST00000432464.5:c.206-17_206-16del ENSP00000409208.1:n.206-17_206-16del
XM_006717737.2:c.938-17_938-16del XP_006717800.1:n.938-17_938-16del
XM_011539561.1:c.515-17_515-16del XP_011537863.1:n.515-17_515-16del