Canonical Allele Identifier: CA16041635
Gene: SACS HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338981_23338984del , CM000675.2:g.23338981_23338984del GRCh38
NC_000013.10:g.23913120_23913123del , CM000675.1:g.23913120_23913123del GRCh37
NC_000013.9:g.22811120_22811123del NCBI36
NG_012342.1:g.99721_99724del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+14803_2185+14806del ENSP00000508399.1:n.2185+14803_2185+14806del
ENST00000682944.1:c.4921_4924del ENSP00000507173.1:p.Thr1641Ter
ENST00000683210.1:c.2185+14803_2185+14806del ENSP00000506739.1:n.2185+14803_2185+14806del
ENST00000683270.1:c.4885_4888del ENSP00000507624.1:p.Thr1629Ter
ENST00000683367.1:c.2177-9498_2177-9495del ENSP00000507780.1:n.2177-9498_2177-9495del
ENST00000683489.1:c.2291+2603_2291+2606del ENSP00000508403.1:n.2291+2603_2291+2606del
ENST00000683680.1:c.2318+2603_2318+2606del ENSP00000507223.1:n.2318+2603_2318+2606del
ENST00000684163.1:c.2203+7829_2203+7832del ENSP00000508262.1:n.2203+7829_2203+7832del
ENST00000684196.1:n.4543-9498_4543-9495del
ENST00000684325.1:c.2185+14803_2185+14806del ENSP00000508121.1:n.2185+14803_2185+14806del
ENST00000684385.1:c.2220+7829_2220+7832del ENSP00000507855.1:n.2220+7829_2220+7832del
ENST00000684497.1:c.2185+14803_2185+14806del ENSP00000507057.1:n.2185+14803_2185+14806del
ENST00000382292.9:c.4894_4897del MANE Select ENSP00000371729.3:p.Thr1632Ter
ENST00000423156.2:c.2186-9498_2186-9495del ENSP00000390925.2:n.2186-9498_2186-9495del
ENST00000455470.6:c.2431+2463_2431+2466del ENSP00000406565.2:n.2431+2463_2431+2466del
ENST00000382292.7:c.4894_4897del ENSP00000371729.3:p.Thr1632Ter
ENST00000382298.7:c.4894_4897del ENSP00000371735.3:p.Thr1632Ter
ENST00000402364.1:c.2644_2647del ENSP00000385844.1:p.Thr882Ter
ENST00000423156.1:c.1058-9498_1058-9495del ENSP00000390925.1:n.1058-9498_1058-9495del
ENST00000455470.5:c.2129+2463_2129+2466del
NM_001278055.1:c.4453_4456del NP_001264984.1:p.Thr1485Ter
NM_014363.5:c.4894_4897del NP_055178.3:p.Thr1632Ter
XM_005266338.1:c.4921_4924del XP_005266395.1:p.Thr1641Ter
XM_011535038.1:c.4945_4948del XP_011533340.1:p.Thr1649Ter
XM_011535039.1:c.4912_4915del XP_011533341.1:p.Thr1638Ter
XM_005266338.2:c.4921_4924del XP_005266395.1:p.Thr1641Ter
XM_011535039.2:c.4912_4915del XP_011533341.1:p.Thr1638Ter
XM_017020539.1:c.4885_4888del XP_016876028.1:p.Thr1629Ter
XM_024449337.1:c.4921_4924del XP_024305105.1:p.Thr1641Ter
NM_014363.6:c.4894_4897del MANE Select NP_055178.3:p.Thr1632Ter
NM_001278055.2:c.4453_4456del NP_001264984.1:p.Thr1485Ter
Search 100 bp 5'
Search 100 bp 3'