Canonical Allele Identifier: CA608985217
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs1566055338

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330958_23330959insTGTCCCTGCTTTGAGAGCTTTCCTCAGGTCTTGAAAACTTATACAGATCAAGAGAGCTAACTATTTTAT , CM000675.2:g.23330958_23330959insTGTCCCTGCTTTGAGAGCTTTCCTCAGGTCTTGAAAACTTATACAGATCAAGAGAGCTAACTATTTTAT GRCh38
NC_000013.10:g.23905097_23905098insTGTCCCTGCTTTGAGAGCTTTCCTCAGGTCTTGAAAACTTATACAGATCAAGAGAGCTAACTATTTTAT , CM000675.1:g.23905097_23905098insTGTCCCTGCTTTGAGAGCTTTCCTCAGGTCTTGAAAACTTATACAGATCAAGAGAGCTAACTATTTTAT GRCh37
NC_000013.9:g.22803097_22803098insTGTCCCTGCTTTGAGAGCTTTCCTCAGGTCTTGAAAACTTATACAGATCAAGAGAGCTAACTATTTTAT NCBI36
NG_012342.1:g.107744_107745insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18844_2186-18843insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000508399.1:n.2186-18844_2186-18843...
ENST00000682944.1:c.12944_12945insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000507173.1:p.Ile4316Ter
ENST00000683210.1:c.2185+22826_2185+22827insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000506739.1:n.2185+22826_2185+22827...
ENST00000683270.1:c.6446-1475_6446-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000507624.1:n.6446-1475_6446-1474in...
ENST00000683367.1:c.2177-1475_2177-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000507780.1:n.2177-1475_2177-1474in...
ENST00000683489.1:c.2292-1007_2292-1006insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000508403.1:n.2292-1007_2292-1006in...
ENST00000683680.1:c.2319-1007_2319-1006insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000507223.1:n.2319-1007_2319-1006in...
ENST00000684163.1:c.2204-1475_2204-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000508262.1:n.2204-1475_2204-1474in...
ENST00000684196.1:n.4543-1475_4543-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA
ENST00000684325.1:c.2186-9285_2186-9284insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000508121.1:n.2186-9285_2186-9284in...
ENST00000684385.1:c.2221-1475_2221-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000507855.1:n.2221-1475_2221-1474in...
ENST00000684497.1:c.2186-8315_2186-8314insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000507057.1:n.2186-8315_2186-8314in...
ENST00000382292.9:c.12917_12918insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA MANE Select ENSP00000371729.3:p.Ile4307Ter
ENST00000423156.2:c.2186-1475_2186-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000390925.2:n.2186-1475_2186-1474in...
ENST00000455470.6:c.2432-1475_2432-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000406565.2:n.2432-1475_2432-1474in...
ENST00000382292.7:c.12917_12918insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000371729.3:p.Ile4307Ter
ENST00000382298.7:c.12917_12918insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000371735.3:p.Ile4307Ter
ENST00000402364.1:c.10667_10668insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000385844.1:p.Ile3557Ter
ENST00000423156.1:c.1058-1475_1058-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA ENSP00000390925.1:n.1058-1475_1058-1474in...
ENST00000455470.5:c.2130-1475_2130-1474insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA
NM_001278055.1:c.12476_12477insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA NP_001264984.1:p.Ile4160Ter
NM_014363.5:c.12917_12918insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA NP_055178.3:p.Ile4307Ter
XM_005266338.1:c.12944_12945insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA XP_005266395.1:p.Ile4316Ter
XM_011535038.1:c.12968_12969insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA XP_011533340.1:p.Ile4324Ter
XM_011535039.1:c.12935_12936insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA XP_011533341.1:p.Ile4313Ter
XM_005266338.2:c.12944_12945insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA XP_005266395.1:p.Ile4316Ter
XM_011535039.2:c.12935_12936insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA XP_011533341.1:p.Ile4313Ter
XM_017020539.1:c.12908_12909insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA XP_016876028.1:p.Ile4304Ter
XM_024449337.1:c.12944_12945insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA XP_024305105.1:p.Ile4316Ter
NM_014363.6:c.12917_12918insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA MANE Select NP_055178.3:p.Ile4307Ter
NM_001278055.2:c.12476_12477insATAAAATAGTTAGCTCTCTTGATCTGTATAAGTTTTCAAGACCTGAGGAAAGCTCTCAAAGCAGGGACA NP_001264984.1:p.Ile4160Ter