Canonical Allele Identifier: CA2078633672
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333876_23333890delinsAAGCAAGCTGAATAC , CM000675.2:g.23333876_23333890delinsAAGCAAGCTGAATAC GRCh38
NC_000013.10:g.23908015_23908029delinsAAGCAAGCTGAATAC , CM000675.1:g.23908015_23908029delinsAAGCAAGCTGAATAC GRCh37
NC_000013.9:g.22806015_22806029delinsAAGCAAGCTGAATAC NCBI36
NG_012342.1:g.104813_104827delinsGTATTCAGCTTGCTT

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19895_2185+19909delinsGTATTCAGCTTGCTT ENSP00000508399.1:n.2185+19895_2185+19909...
ENST00000682944.1:c.10013_10027delinsGTATTCAGCTTGCTT ENSP00000507173.1:p.Cys3338=
ENST00000683210.1:c.2185+19895_2185+19909delinsGTATTCAGCTTGCTT ENSP00000506739.1:n.2185+19895_2185+19909...
ENST00000683270.1:c.6445+3532_6445+3546delinsGTATTCAGCTTGCTT ENSP00000507624.1:n.6445+3532_6445+3546de...
ENST00000683367.1:c.2177-4406_2177-4392delinsGTATTCAGCTTGCTT ENSP00000507780.1:n.2177-4406_2177-4392de...
ENST00000683489.1:c.2292-3938_2292-3924delinsGTATTCAGCTTGCTT ENSP00000508403.1:n.2292-3938_2292-3924de...
ENST00000683680.1:c.2319-3938_2319-3924delinsGTATTCAGCTTGCTT ENSP00000507223.1:n.2319-3938_2319-3924de...
ENST00000684163.1:c.2204-4406_2204-4392delinsGTATTCAGCTTGCTT ENSP00000508262.1:n.2204-4406_2204-4392de...
ENST00000684196.1:n.4543-4406_4543-4392delinsGTATTCAGCTTGCTT
ENST00000684325.1:c.2186-12216_2186-12202delinsGTATTCAGCTTGCTT ENSP00000508121.1:n.2186-12216_2186-12202...
ENST00000684385.1:c.2221-4406_2221-4392delinsGTATTCAGCTTGCTT ENSP00000507855.1:n.2221-4406_2221-4392de...
ENST00000684497.1:c.2186-11246_2186-11232delinsGTATTCAGCTTGCTT ENSP00000507057.1:n.2186-11246_2186-11232...
ENST00000382292.9:c.9986_10000delinsGTATTCAGCTTGCTT MANE Select ENSP00000371729.3:p.Cys3329=
ENST00000423156.2:c.2186-4406_2186-4392delinsGTATTCAGCTTGCTT ENSP00000390925.2:n.2186-4406_2186-4392de...
ENST00000455470.6:c.2432-4406_2432-4392delinsGTATTCAGCTTGCTT ENSP00000406565.2:n.2432-4406_2432-4392de...
ENST00000382292.7:c.9986_10000delinsGTATTCAGCTTGCTT ENSP00000371729.3:p.Cys3329=
ENST00000382298.7:c.9986_10000delinsGTATTCAGCTTGCTT ENSP00000371735.3:p.Cys3329=
ENST00000402364.1:c.7736_7750delinsGTATTCAGCTTGCTT ENSP00000385844.1:p.Cys2579=
ENST00000423156.1:c.1058-4406_1058-4392delinsGTATTCAGCTTGCTT ENSP00000390925.1:n.1058-4406_1058-4392de...
ENST00000455470.5:c.2130-4406_2130-4392delinsGTATTCAGCTTGCTT
NM_001278055.1:c.9545_9559delinsGTATTCAGCTTGCTT NP_001264984.1:p.Cys3182=
NM_014363.5:c.9986_10000delinsGTATTCAGCTTGCTT NP_055178.3:p.Cys3329=
XM_005266338.1:c.10013_10027delinsGTATTCAGCTTGCTT XP_005266395.1:p.Cys3338=
XM_011535038.1:c.10037_10051delinsGTATTCAGCTTGCTT XP_011533340.1:p.Cys3346=
XM_011535039.1:c.10004_10018delinsGTATTCAGCTTGCTT XP_011533341.1:p.Cys3335=
XM_005266338.2:c.10013_10027delinsGTATTCAGCTTGCTT XP_005266395.1:p.Cys3338=
XM_011535039.2:c.10004_10018delinsGTATTCAGCTTGCTT XP_011533341.1:p.Cys3335=
XM_017020539.1:c.9977_9991delinsGTATTCAGCTTGCTT XP_016876028.1:p.Cys3326=
XM_024449337.1:c.10013_10027delinsGTATTCAGCTTGCTT XP_024305105.1:p.Cys3338=
NM_014363.6:c.9986_10000delinsGTATTCAGCTTGCTT MANE Select NP_055178.3:p.Cys3329=
NM_001278055.2:c.9545_9559delinsGTATTCAGCTTGCTT NP_001264984.1:p.Cys3182=