Canonical Allele Identifier: CA2622329320
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339778_23339790del , CM000675.2:g.23339778_23339790del GRCh38
NC_000013.10:g.23913917_23913929del , CM000675.1:g.23913917_23913929del GRCh37
NC_000013.9:g.22811917_22811929del NCBI36
NG_012342.1:g.98916_98928del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13998_2185+14010del ENSP00000508399.1:n.2185+13998_2185+14010...
ENST00000682944.1:c.4116_4128del ENSP00000507173.1:p.Arg1373AlafsTer25
ENST00000683210.1:c.2185+13998_2185+14010del ENSP00000506739.1:n.2185+13998_2185+14010...
ENST00000683270.1:c.4080_4092del ENSP00000507624.1:p.Arg1361AlafsTer25
ENST00000683367.1:c.2177-10303_2177-10291del ENSP00000507780.1:n.2177-10303_2177-10291...
ENST00000683489.1:c.2291+1798_2291+1810del ENSP00000508403.1:n.2291+1798_2291+1810de...
ENST00000683680.1:c.2318+1798_2318+1810del ENSP00000507223.1:n.2318+1798_2318+1810de...
ENST00000684163.1:c.2203+7024_2203+7036del ENSP00000508262.1:n.2203+7024_2203+7036de...
ENST00000684196.1:n.4543-10303_4543-10291del
ENST00000684325.1:c.2185+13998_2185+14010del ENSP00000508121.1:n.2185+13998_2185+14010...
ENST00000684385.1:c.2220+7024_2220+7036del ENSP00000507855.1:n.2220+7024_2220+7036de...
ENST00000684497.1:c.2185+13998_2185+14010del ENSP00000507057.1:n.2185+13998_2185+14010...
ENST00000382292.9:c.4089_4101del MANE Select ENSP00000371729.3:p.Arg1364AlafsTer25
ENST00000423156.2:c.2186-10303_2186-10291del ENSP00000390925.2:n.2186-10303_2186-10291...
ENST00000455470.6:c.2431+1658_2431+1670del ENSP00000406565.2:n.2431+1658_2431+1670de...
ENST00000382292.7:c.4089_4101del ENSP00000371729.3:p.Arg1364AlafsTer25
ENST00000382298.7:c.4089_4101del ENSP00000371735.3:p.Arg1364AlafsTer25
ENST00000402364.1:c.1839_1851del ENSP00000385844.1:p.Arg614AlafsTer25
ENST00000423156.1:c.1058-10303_1058-10291del ENSP00000390925.1:n.1058-10303_1058-10291...
ENST00000455470.5:c.2129+1658_2129+1670del
NM_001278055.1:c.3648_3660del NP_001264984.1:p.Arg1217AlafsTer25
NM_014363.5:c.4089_4101del NP_055178.3:p.Arg1364AlafsTer25
XM_005266338.1:c.4116_4128del XP_005266395.1:p.Arg1373AlafsTer25
XM_011535038.1:c.4140_4152del XP_011533340.1:p.Arg1381AlafsTer25
XM_011535039.1:c.4107_4119del XP_011533341.1:p.Arg1370AlafsTer25
XM_005266338.2:c.4116_4128del XP_005266395.1:p.Arg1373AlafsTer25
XM_011535039.2:c.4107_4119del XP_011533341.1:p.Arg1370AlafsTer25
XM_017020539.1:c.4080_4092del XP_016876028.1:p.Arg1361AlafsTer25
XM_024449337.1:c.4116_4128del XP_024305105.1:p.Arg1373AlafsTer25
NM_014363.6:c.4089_4101del MANE Select NP_055178.3:p.Arg1364AlafsTer25
NM_001278055.2:c.3648_3660del NP_001264984.1:p.Arg1217AlafsTer25