Canonical Allele Identifier: CA2622328903
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333967_23333968del , CM000675.2:g.23333967_23333968del GRCh38
NC_000013.10:g.23908106_23908107del , CM000675.1:g.23908106_23908107del GRCh37
NC_000013.9:g.22806106_22806107del NCBI36
NG_012342.1:g.104738_104739del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19820_2185+19821del ENSP00000508399.1:n.2185+19820_2185+19821...
ENST00000682944.1:c.9938_9939del ENSP00000507173.1:p.Leu3313GlnfsTer14
ENST00000683210.1:c.2185+19820_2185+19821del ENSP00000506739.1:n.2185+19820_2185+19821...
ENST00000683270.1:c.6445+3457_6445+3458del ENSP00000507624.1:n.6445+3457_6445+3458de...
ENST00000683367.1:c.2177-4481_2177-4480del ENSP00000507780.1:n.2177-4481_2177-4480de...
ENST00000683489.1:c.2292-4013_2292-4012del ENSP00000508403.1:n.2292-4013_2292-4012de...
ENST00000683680.1:c.2319-4013_2319-4012del ENSP00000507223.1:n.2319-4013_2319-4012de...
ENST00000684163.1:c.2204-4481_2204-4480del ENSP00000508262.1:n.2204-4481_2204-4480de...
ENST00000684196.1:n.4543-4481_4543-4480del
ENST00000684325.1:c.2186-12291_2186-12290del ENSP00000508121.1:n.2186-12291_2186-12290...
ENST00000684385.1:c.2221-4481_2221-4480del ENSP00000507855.1:n.2221-4481_2221-4480de...
ENST00000684497.1:c.2186-11321_2186-11320del ENSP00000507057.1:n.2186-11321_2186-11320...
ENST00000382292.9:c.9911_9912del MANE Select ENSP00000371729.3:p.Leu3304GlnfsTer14
ENST00000423156.2:c.2186-4481_2186-4480del ENSP00000390925.2:n.2186-4481_2186-4480de...
ENST00000455470.6:c.2432-4481_2432-4480del ENSP00000406565.2:n.2432-4481_2432-4480de...
ENST00000382292.7:c.9911_9912del ENSP00000371729.3:p.Leu3304GlnfsTer14
ENST00000382298.7:c.9911_9912del ENSP00000371735.3:p.Leu3304GlnfsTer14
ENST00000402364.1:c.7661_7662del ENSP00000385844.1:p.Leu2554GlnfsTer14
ENST00000423156.1:c.1058-4481_1058-4480del ENSP00000390925.1:n.1058-4481_1058-4480de...
ENST00000455470.5:c.2130-4481_2130-4480del
NM_001278055.1:c.9470_9471del NP_001264984.1:p.Leu3157GlnfsTer14
NM_014363.5:c.9911_9912del NP_055178.3:p.Leu3304GlnfsTer14
XM_005266338.1:c.9938_9939del XP_005266395.1:p.Leu3313GlnfsTer14
XM_011535038.1:c.9962_9963del XP_011533340.1:p.Leu3321GlnfsTer14
XM_011535039.1:c.9929_9930del XP_011533341.1:p.Leu3310GlnfsTer14
XM_005266338.2:c.9938_9939del XP_005266395.1:p.Leu3313GlnfsTer14
XM_011535039.2:c.9929_9930del XP_011533341.1:p.Leu3310GlnfsTer14
XM_017020539.1:c.9902_9903del XP_016876028.1:p.Leu3301GlnfsTer14
XM_024449337.1:c.9938_9939del XP_024305105.1:p.Leu3313GlnfsTer14
NM_014363.6:c.9911_9912del MANE Select NP_055178.3:p.Leu3304GlnfsTer14
NM_001278055.2:c.9470_9471del NP_001264984.1:p.Leu3157GlnfsTer14