Canonical Allele Identifier: CA16041615
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23335143_23335144del , CM000675.2:g.23335143_23335144del GRCh38
NC_000013.10:g.23909282_23909283del , CM000675.1:g.23909282_23909283del GRCh37
NC_000013.9:g.22807282_22807283del NCBI36
NG_012342.1:g.103560_103561del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+18642_2185+18643del ENSP00000508399.1:n.2185+18642_2185+18643del
ENST00000682944.1:c.8760_8761del ENSP00000507173.1:p.Asn2920LysfsTer13
ENST00000683210.1:c.2185+18642_2185+18643del ENSP00000506739.1:n.2185+18642_2185+18643del
ENST00000683270.1:c.6445+2279_6445+2280del ENSP00000507624.1:n.6445+2279_6445+2280del
ENST00000683367.1:c.2177-5659_2177-5658del ENSP00000507780.1:n.2177-5659_2177-5658del
ENST00000683489.1:c.2292-5191_2292-5190del ENSP00000508403.1:n.2292-5191_2292-5190del
ENST00000683680.1:c.2319-5191_2319-5190del ENSP00000507223.1:n.2319-5191_2319-5190del
ENST00000684163.1:c.2204-5659_2204-5658del ENSP00000508262.1:n.2204-5659_2204-5658del
ENST00000684196.1:n.4543-5659_4543-5658del
ENST00000684325.1:c.2186-13469_2186-13468del ENSP00000508121.1:n.2186-13469_2186-13468del
ENST00000684385.1:c.2221-5659_2221-5658del ENSP00000507855.1:n.2221-5659_2221-5658del
ENST00000684497.1:c.2186-12499_2186-12498del ENSP00000507057.1:n.2186-12499_2186-12498del
ENST00000382292.9:c.8733_8734del MANE Select ENSP00000371729.3:p.Asn2911LysfsTer13
ENST00000423156.2:c.2186-5659_2186-5658del ENSP00000390925.2:n.2186-5659_2186-5658del
ENST00000455470.6:c.2432-5659_2432-5658del ENSP00000406565.2:n.2432-5659_2432-5658del
ENST00000382292.7:c.8733_8734del ENSP00000371729.3:p.Asn2911LysfsTer13
ENST00000382298.7:c.8733_8734del ENSP00000371735.3:p.Asn2911LysfsTer13
ENST00000402364.1:c.6483_6484del ENSP00000385844.1:p.Asn2161LysfsTer13
ENST00000423156.1:c.1058-5659_1058-5658del ENSP00000390925.1:n.1058-5659_1058-5658del
ENST00000455470.5:c.2130-5659_2130-5658del
NM_001278055.1:c.8292_8293del NP_001264984.1:p.Asn2764LysfsTer13
NM_014363.5:c.8733_8734del NP_055178.3:p.Asn2911LysfsTer13
XM_005266338.1:c.8760_8761del XP_005266395.1:p.Asn2920LysfsTer13
XM_011535038.1:c.8784_8785del XP_011533340.1:p.Asn2928LysfsTer13
XM_011535039.1:c.8751_8752del XP_011533341.1:p.Asn2917LysfsTer13
XM_005266338.2:c.8760_8761del XP_005266395.1:p.Asn2920LysfsTer13
XM_011535039.2:c.8751_8752del XP_011533341.1:p.Asn2917LysfsTer13
XM_017020539.1:c.8724_8725del XP_016876028.1:p.Asn2908LysfsTer13
XM_024449337.1:c.8760_8761del XP_024305105.1:p.Asn2920LysfsTer13
NM_014363.6:c.8733_8734del MANE Select NP_055178.3:p.Asn2911LysfsTer13
NM_001278055.2:c.8292_8293del NP_001264984.1:p.Asn2764LysfsTer13