Canonical Allele Identifier: CA2575369371
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330971_23330973del , CM000675.2:g.23330971_23330973del GRCh38
NC_000013.10:g.23905110_23905112del , CM000675.1:g.23905110_23905112del GRCh37
NC_000013.9:g.22803110_22803112del NCBI36
NG_012342.1:g.107732_107734del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18856_2186-18854del ENSP00000508399.1:n.2186-18856_2186-18854...
ENST00000682944.1:c.12932_12934del ENSP00000507173.1:p.Ser4311del
ENST00000683210.1:c.2185+22814_2185+22816del ENSP00000506739.1:n.2185+22814_2185+22816...
ENST00000683270.1:c.6446-1487_6446-1485del ENSP00000507624.1:n.6446-1487_6446-1485de...
ENST00000683367.1:c.2177-1487_2177-1485del ENSP00000507780.1:n.2177-1487_2177-1485de...
ENST00000683489.1:c.2292-1019_2292-1017del ENSP00000508403.1:n.2292-1019_2292-1017de...
ENST00000683680.1:c.2319-1019_2319-1017del ENSP00000507223.1:n.2319-1019_2319-1017de...
ENST00000684163.1:c.2204-1487_2204-1485del ENSP00000508262.1:n.2204-1487_2204-1485de...
ENST00000684196.1:n.4543-1487_4543-1485del
ENST00000684325.1:c.2186-9297_2186-9295del ENSP00000508121.1:n.2186-9297_2186-9295de...
ENST00000684385.1:c.2221-1487_2221-1485del ENSP00000507855.1:n.2221-1487_2221-1485de...
ENST00000684497.1:c.2186-8327_2186-8325del ENSP00000507057.1:n.2186-8327_2186-8325de...
ENST00000382292.9:c.12905_12907del MANE Select ENSP00000371729.3:p.Ser4302del
ENST00000423156.2:c.2186-1487_2186-1485del ENSP00000390925.2:n.2186-1487_2186-1485de...
ENST00000455470.6:c.2432-1487_2432-1485del ENSP00000406565.2:n.2432-1487_2432-1485de...
ENST00000382292.7:c.12905_12907del ENSP00000371729.3:p.Ser4302del
ENST00000382298.7:c.12905_12907del ENSP00000371735.3:p.Ser4302del
ENST00000402364.1:c.10655_10657del ENSP00000385844.1:p.Ser3552del
ENST00000423156.1:c.1058-1487_1058-1485del ENSP00000390925.1:n.1058-1487_1058-1485de...
ENST00000455470.5:c.2130-1487_2130-1485del
NM_001278055.1:c.12464_12466del NP_001264984.1:p.Ser4155del
NM_014363.5:c.12905_12907del NP_055178.3:p.Ser4302del
XM_005266338.1:c.12932_12934del XP_005266395.1:p.Ser4311del
XM_011535038.1:c.12956_12958del XP_011533340.1:p.Ser4319del
XM_011535039.1:c.12923_12925del XP_011533341.1:p.Ser4308del
XM_005266338.2:c.12932_12934del XP_005266395.1:p.Ser4311del
XM_011535039.2:c.12923_12925del XP_011533341.1:p.Ser4308del
XM_017020539.1:c.12896_12898del XP_016876028.1:p.Ser4299del
XM_024449337.1:c.12932_12934del XP_024305105.1:p.Ser4311del
NM_014363.6:c.12905_12907del MANE Select NP_055178.3:p.Ser4302del
NM_001278055.2:c.12464_12466del NP_001264984.1:p.Ser4155del