Canonical Allele Identifier: CA2536567695
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336379_23336380insT , CM000675.2:g.23336379_23336380insT GRCh38
NC_000013.10:g.23910518_23910519insT , CM000675.1:g.23910518_23910519insT GRCh37
NC_000013.9:g.22808518_22808519insT NCBI36
NG_012342.1:g.102323_102324insA

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17405_2185+17406insA ENSP00000508399.1:n.2185+17405_2185+17406...
ENST00000682944.1:c.7523_7524insA ENSP00000507173.1:p.Arg2511AlafsTer?
ENST00000683210.1:c.2185+17405_2185+17406insA ENSP00000506739.1:n.2185+17405_2185+17406...
ENST00000683270.1:c.6445+1042_6445+1043insA ENSP00000507624.1:n.6445+1042_6445+1043in...
ENST00000683367.1:c.2177-6896_2177-6895insA ENSP00000507780.1:n.2177-6896_2177-6895in...
ENST00000683489.1:c.2291+5205_2291+5206insA ENSP00000508403.1:n.2291+5205_2291+5206in...
ENST00000683680.1:c.2318+5205_2318+5206insA ENSP00000507223.1:n.2318+5205_2318+5206in...
ENST00000684163.1:c.2204-6896_2204-6895insA ENSP00000508262.1:n.2204-6896_2204-6895in...
ENST00000684196.1:n.4543-6896_4543-6895insA
ENST00000684325.1:c.2186-14706_2186-14705insA ENSP00000508121.1:n.2186-14706_2186-14705...
ENST00000684385.1:c.2221-6896_2221-6895insA ENSP00000507855.1:n.2221-6896_2221-6895in...
ENST00000684497.1:c.2186-13736_2186-13735insA ENSP00000507057.1:n.2186-13736_2186-13735...
ENST00000382292.9:c.7496_7497insA MANE Select ENSP00000371729.3:p.Arg2502AlafsTer?
ENST00000423156.2:c.2186-6896_2186-6895insA ENSP00000390925.2:n.2186-6896_2186-6895in...
ENST00000455470.6:c.2431+5065_2431+5066insA ENSP00000406565.2:n.2431+5065_2431+5066in...
ENST00000382292.7:c.7496_7497insA ENSP00000371729.3:p.Arg2502AlafsTer?
ENST00000382298.7:c.7496_7497insA ENSP00000371735.3:p.Arg2502AlafsTer?
ENST00000402364.1:c.5246_5247insA ENSP00000385844.1:p.Arg1752AlafsTer?
ENST00000423156.1:c.1058-6896_1058-6895insA ENSP00000390925.1:n.1058-6896_1058-6895in...
ENST00000455470.5:c.2129+5065_2129+5066insA
NM_001278055.1:c.7055_7056insA NP_001264984.1:p.Arg2355AlafsTer?
NM_014363.5:c.7496_7497insA NP_055178.3:p.Arg2502AlafsTer?
XM_005266338.1:c.7523_7524insA XP_005266395.1:p.Arg2511AlafsTer?
XM_011535038.1:c.7547_7548insA XP_011533340.1:p.Arg2519AlafsTer?
XM_011535039.1:c.7514_7515insA XP_011533341.1:p.Arg2508AlafsTer?
XM_005266338.2:c.7523_7524insA XP_005266395.1:p.Arg2511AlafsTer?
XM_011535039.2:c.7514_7515insA XP_011533341.1:p.Arg2508AlafsTer?
XM_017020539.1:c.7487_7488insA XP_016876028.1:p.Arg2499AlafsTer?
XM_024449337.1:c.7523_7524insA XP_024305105.1:p.Arg2511AlafsTer?
NM_014363.6:c.7496_7497insA MANE Select NP_055178.3:p.Arg2502AlafsTer?
NM_001278055.2:c.7055_7056insA NP_001264984.1:p.Arg2355AlafsTer?