Canonical Allele Identifier: CA2078633292
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333492_23333497delinsGTTCTT , CM000675.2:g.23333492_23333497delinsGTTCTT GRCh38
NC_000013.10:g.23907631_23907636delinsGTTCTT , CM000675.1:g.23907631_23907636delinsGTTCTT GRCh37
NC_000013.9:g.22805631_22805636delinsGTTCTT NCBI36
NG_012342.1:g.105206_105211delinsAAGAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20288_2185+20293delinsAAGAAC ENSP00000508399.1:n.2185+20288_2185+20293delinsAAGAAC
ENST00000682944.1:c.10406_10411delinsAAGAAC ENSP00000507173.1:p.Lys3469=
ENST00000683210.1:c.2185+20288_2185+20293delinsAAGAAC ENSP00000506739.1:n.2185+20288_2185+20293delinsAAGAAC
ENST00000683270.1:c.6445+3925_6445+3930delinsAAGAAC ENSP00000507624.1:n.6445+3925_6445+3930delinsAAGAAC
ENST00000683367.1:c.2177-4013_2177-4008delinsAAGAAC ENSP00000507780.1:n.2177-4013_2177-4008delinsAAGAAC
ENST00000683489.1:c.2292-3545_2292-3540delinsAAGAAC ENSP00000508403.1:n.2292-3545_2292-3540delinsAAGAAC
ENST00000683680.1:c.2319-3545_2319-3540delinsAAGAAC ENSP00000507223.1:n.2319-3545_2319-3540delinsAAGAAC
ENST00000684163.1:c.2204-4013_2204-4008delinsAAGAAC ENSP00000508262.1:n.2204-4013_2204-4008delinsAAGAAC
ENST00000684196.1:n.4543-4013_4543-4008delinsAAGAAC
ENST00000684325.1:c.2186-11823_2186-11818delinsAAGAAC ENSP00000508121.1:n.2186-11823_2186-11818delinsAAGAAC
ENST00000684385.1:c.2221-4013_2221-4008delinsAAGAAC ENSP00000507855.1:n.2221-4013_2221-4008delinsAAGAAC
ENST00000684497.1:c.2186-10853_2186-10848delinsAAGAAC ENSP00000507057.1:n.2186-10853_2186-10848delinsAAGAAC
ENST00000382292.9:c.10379_10384delinsAAGAAC MANE Select ENSP00000371729.3:p.Lys3460=
ENST00000423156.2:c.2186-4013_2186-4008delinsAAGAAC ENSP00000390925.2:n.2186-4013_2186-4008delinsAAGAAC
ENST00000455470.6:c.2432-4013_2432-4008delinsAAGAAC ENSP00000406565.2:n.2432-4013_2432-4008delinsAAGAAC
ENST00000382292.7:c.10379_10384delinsAAGAAC ENSP00000371729.3:p.Lys3460=
ENST00000382298.7:c.10379_10384delinsAAGAAC ENSP00000371735.3:p.Lys3460=
ENST00000402364.1:c.8129_8134delinsAAGAAC ENSP00000385844.1:p.Lys2710=
ENST00000423156.1:c.1058-4013_1058-4008delinsAAGAAC ENSP00000390925.1:n.1058-4013_1058-4008delinsAAGAAC
ENST00000455470.5:c.2130-4013_2130-4008delinsAAGAAC
NM_001278055.1:c.9938_9943delinsAAGAAC NP_001264984.1:p.Lys3313=
NM_014363.5:c.10379_10384delinsAAGAAC NP_055178.3:p.Lys3460=
XM_005266338.1:c.10406_10411delinsAAGAAC XP_005266395.1:p.Lys3469=
XM_011535038.1:c.10430_10435delinsAAGAAC XP_011533340.1:p.Lys3477=
XM_011535039.1:c.10397_10402delinsAAGAAC XP_011533341.1:p.Lys3466=
XM_005266338.2:c.10406_10411delinsAAGAAC XP_005266395.1:p.Lys3469=
XM_011535039.2:c.10397_10402delinsAAGAAC XP_011533341.1:p.Lys3466=
XM_017020539.1:c.10370_10375delinsAAGAAC XP_016876028.1:p.Lys3457=
XM_024449337.1:c.10406_10411delinsAAGAAC XP_024305105.1:p.Lys3469=
NM_014363.6:c.10379_10384delinsAAGAAC MANE Select NP_055178.3:p.Lys3460=
NM_001278055.2:c.9938_9943delinsAAGAAC NP_001264984.1:p.Lys3313=