Canonical Allele Identifier: CA16041618
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371043
ClinVar RCV Id: RCV000409944
dbSNP Id: rs1057516959

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336090del , CM000675.2:g.23336090del GRCh38
NC_000013.10:g.23910229del , CM000675.1:g.23910229del GRCh37
NC_000013.9:g.22808229del NCBI36
NG_012342.1:g.102615del

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.7788del MANE Select ENSP00000371729.3:p.Phe2596LeufsTer29
ENST00000423156.2:c.2186-6604del ENSP00000390925.2:p.=
ENST00000455470.6:c.2431+5357del ENSP00000406565.2:p.=
ENST00000382292.7:c.7788del ENSP00000371729.3:p.Phe2596LeufsTer29
ENST00000382298.7:c.7788del ENSP00000371735.3:p.Phe2596LeufsTer29
ENST00000402364.1:c.5538del ENSP00000385844.1:p.Phe1846LeufsTer29
ENST00000423156.1:n.1058-6604del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+5357del
NM_001278055.1:c.7347del NP_001264984.1:p.Phe2449LeufsTer29
NM_014363.5:c.7788del NP_055178.3:p.Phe2596LeufsTer29
XM_005266338.1:c.7815del XP_005266395.1:p.Phe2605LeufsTer29
XM_011535038.1:c.7839del XP_011533340.1:p.Phe2613LeufsTer29
XM_011535039.1:c.7806del XP_011533341.1:p.Phe2602LeufsTer29
XM_005266338.2:c.7815del XP_005266395.1:p.Phe2605LeufsTer29
XM_011535039.2:c.7806del XP_011533341.1:p.Phe2602LeufsTer29
XM_017020539.1:c.7779del XP_016876028.1:p.Phe2593LeufsTer29
XM_024449337.1:c.7815del XP_024305105.1:p.Phe2605LeufsTer29
NM_014363.6:c.7788del MANE Select NP_055178.3:p.Phe2596LeufsTer29
NM_001278055.2:c.7347del NP_001264984.1:p.Phe2449LeufsTer29