Canonical Allele Identifier: CA912980202
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333975_23333978del , CM000675.2:g.23333975_23333978del GRCh38
NC_000013.10:g.23908114_23908117del , CM000675.1:g.23908114_23908117del GRCh37
NC_000013.9:g.22806114_22806117del NCBI36
NG_012342.1:g.104725_104728del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19807_2185+19810del ENSP00000508399.1:n.2185+19807_2185+19810...
ENST00000682944.1:c.9925_9928del ENSP00000507173.1:p.Val3309CysfsTer24
ENST00000683210.1:c.2185+19807_2185+19810del ENSP00000506739.1:n.2185+19807_2185+19810...
ENST00000683270.1:c.6445+3444_6445+3447del ENSP00000507624.1:n.6445+3444_6445+3447de...
ENST00000683367.1:c.2177-4494_2177-4491del ENSP00000507780.1:n.2177-4494_2177-4491de...
ENST00000683489.1:c.2292-4026_2292-4023del ENSP00000508403.1:n.2292-4026_2292-4023de...
ENST00000683680.1:c.2319-4026_2319-4023del ENSP00000507223.1:n.2319-4026_2319-4023de...
ENST00000684163.1:c.2204-4494_2204-4491del ENSP00000508262.1:n.2204-4494_2204-4491de...
ENST00000684196.1:n.4543-4494_4543-4491del
ENST00000684325.1:c.2186-12304_2186-12301del ENSP00000508121.1:n.2186-12304_2186-12301...
ENST00000684385.1:c.2221-4494_2221-4491del ENSP00000507855.1:n.2221-4494_2221-4491de...
ENST00000684497.1:c.2186-11334_2186-11331del ENSP00000507057.1:n.2186-11334_2186-11331...
ENST00000382292.9:c.9898_9901del MANE Select ENSP00000371729.3:p.Val3300CysfsTer24
ENST00000423156.2:c.2186-4494_2186-4491del ENSP00000390925.2:n.2186-4494_2186-4491de...
ENST00000455470.6:c.2432-4494_2432-4491del ENSP00000406565.2:n.2432-4494_2432-4491de...
ENST00000382292.7:c.9898_9901del ENSP00000371729.3:p.Val3300CysfsTer24
ENST00000382298.7:c.9898_9901del ENSP00000371735.3:p.Val3300CysfsTer24
ENST00000402364.1:c.7648_7651del ENSP00000385844.1:p.Val2550CysfsTer24
ENST00000423156.1:c.1058-4494_1058-4491del ENSP00000390925.1:n.1058-4494_1058-4491de...
ENST00000455470.5:c.2130-4494_2130-4491del
NM_001278055.1:c.9457_9460del NP_001264984.1:p.Val3153CysfsTer24
NM_014363.5:c.9898_9901del NP_055178.3:p.Val3300CysfsTer24
XM_005266338.1:c.9925_9928del XP_005266395.1:p.Val3309CysfsTer24
XM_011535038.1:c.9949_9952del XP_011533340.1:p.Val3317CysfsTer24
XM_011535039.1:c.9916_9919del XP_011533341.1:p.Val3306CysfsTer24
XM_005266338.2:c.9925_9928del XP_005266395.1:p.Val3309CysfsTer24
XM_011535039.2:c.9916_9919del XP_011533341.1:p.Val3306CysfsTer24
XM_017020539.1:c.9889_9892del XP_016876028.1:p.Val3297CysfsTer24
XM_024449337.1:c.9925_9928del XP_024305105.1:p.Val3309CysfsTer24
NM_014363.6:c.9898_9901del MANE Select NP_055178.3:p.Val3300CysfsTer24
NM_001278055.2:c.9457_9460del NP_001264984.1:p.Val3153CysfsTer24