Canonical Allele Identifier: CA2078633674
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs1883652814

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333880_23333893del , CM000675.2:g.23333880_23333893del GRCh38
NC_000013.10:g.23908019_23908032del , CM000675.1:g.23908019_23908032del GRCh37
NC_000013.9:g.22806019_22806032del NCBI36
NG_012342.1:g.104813_104826del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19895_2185+19908del ENSP00000508399.1:n.2185+19895_2185+19908...
ENST00000682944.1:c.10013_10026del ENSP00000507173.1:p.Cys3338PhefsTer?
ENST00000683210.1:c.2185+19895_2185+19908del ENSP00000506739.1:n.2185+19895_2185+19908...
ENST00000683270.1:c.6445+3532_6445+3545del ENSP00000507624.1:n.6445+3532_6445+3545de...
ENST00000683367.1:c.2177-4406_2177-4393del ENSP00000507780.1:n.2177-4406_2177-4393de...
ENST00000683489.1:c.2292-3938_2292-3925del ENSP00000508403.1:n.2292-3938_2292-3925de...
ENST00000683680.1:c.2319-3938_2319-3925del ENSP00000507223.1:n.2319-3938_2319-3925de...
ENST00000684163.1:c.2204-4406_2204-4393del ENSP00000508262.1:n.2204-4406_2204-4393de...
ENST00000684196.1:n.4543-4406_4543-4393del
ENST00000684325.1:c.2186-12216_2186-12203del ENSP00000508121.1:n.2186-12216_2186-12203...
ENST00000684385.1:c.2221-4406_2221-4393del ENSP00000507855.1:n.2221-4406_2221-4393de...
ENST00000684497.1:c.2186-11246_2186-11233del ENSP00000507057.1:n.2186-11246_2186-11233...
ENST00000382292.9:c.9986_9999del MANE Select ENSP00000371729.3:p.Cys3329PhefsTer?
ENST00000423156.2:c.2186-4406_2186-4393del ENSP00000390925.2:n.2186-4406_2186-4393de...
ENST00000455470.6:c.2432-4406_2432-4393del ENSP00000406565.2:n.2432-4406_2432-4393de...
ENST00000382292.7:c.9986_9999del ENSP00000371729.3:p.Cys3329PhefsTer?
ENST00000382298.7:c.9986_9999del ENSP00000371735.3:p.Cys3329PhefsTer?
ENST00000402364.1:c.7736_7749del ENSP00000385844.1:p.Cys2579PhefsTer?
ENST00000423156.1:c.1058-4406_1058-4393del ENSP00000390925.1:n.1058-4406_1058-4393de...
ENST00000455470.5:c.2130-4406_2130-4393del
NM_001278055.1:c.9545_9558del NP_001264984.1:p.Cys3182PhefsTer?
NM_014363.5:c.9986_9999del NP_055178.3:p.Cys3329PhefsTer?
XM_005266338.1:c.10013_10026del XP_005266395.1:p.Cys3338PhefsTer?
XM_011535038.1:c.10037_10050del XP_011533340.1:p.Cys3346PhefsTer?
XM_011535039.1:c.10004_10017del XP_011533341.1:p.Cys3335PhefsTer?
XM_005266338.2:c.10013_10026del XP_005266395.1:p.Cys3338PhefsTer?
XM_011535039.2:c.10004_10017del XP_011533341.1:p.Cys3335PhefsTer?
XM_017020539.1:c.9977_9990del XP_016876028.1:p.Cys3326PhefsTer?
XM_024449337.1:c.10013_10026del XP_024305105.1:p.Cys3338PhefsTer?
NM_014363.6:c.9986_9999del MANE Select NP_055178.3:p.Cys3329PhefsTer?
NM_001278055.2:c.9545_9558del NP_001264984.1:p.Cys3182PhefsTer?