Canonical Allele Identifier: CA2622329044
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337919_23337920insATAATAGGATTGAGATAAT , CM000675.2:g.23337919_23337920insATAATAGGATTGAGATAAT GRCh38
NC_000013.10:g.23912058_23912059insATAATAGGATTGAGATAAT , CM000675.1:g.23912058_23912059insATAATAGGATTGAGATAAT GRCh37
NC_000013.9:g.22810058_22810059insATAATAGGATTGAGATAAT NCBI36
NG_012342.1:g.100783_100784insATTATCTCAATCCTATTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15865_2185+15866insATTATCTCAATCCTATTAT ENSP00000508399.1:n.2185+15865_2185+15866insATTATCTCAATCCTATT...
ENST00000682944.1:c.5983_5984insATTATCTCAATCCTATTAT ENSP00000507173.1:p.Val1995AspfsTer17
ENST00000683210.1:c.2185+15865_2185+15866insATTATCTCAATCCTATTAT ENSP00000506739.1:n.2185+15865_2185+15866insATTATCTCAATCCTATT...
ENST00000683270.1:c.5947_5948insATTATCTCAATCCTATTAT ENSP00000507624.1:p.Val1983AspfsTer17
ENST00000683367.1:c.2177-8436_2177-8435insATTATCTCAATCCTATTAT ENSP00000507780.1:n.2177-8436_2177-8435insATTATCTCAATCCTATTAT...
ENST00000683489.1:c.2291+3665_2291+3666insATTATCTCAATCCTATTAT ENSP00000508403.1:n.2291+3665_2291+3666insATTATCTCAATCCTATTAT...
ENST00000683680.1:c.2318+3665_2318+3666insATTATCTCAATCCTATTAT ENSP00000507223.1:n.2318+3665_2318+3666insATTATCTCAATCCTATTAT...
ENST00000684163.1:c.2204-8436_2204-8435insATTATCTCAATCCTATTAT ENSP00000508262.1:n.2204-8436_2204-8435insATTATCTCAATCCTATTAT...
ENST00000684196.1:n.4543-8436_4543-8435insATTATCTCAATCCTATTAT
ENST00000684325.1:c.2185+15865_2185+15866insATTATCTCAATCCTATTAT ENSP00000508121.1:n.2185+15865_2185+15866insATTATCTCAATCCTATT...
ENST00000684385.1:c.2221-8436_2221-8435insATTATCTCAATCCTATTAT ENSP00000507855.1:n.2221-8436_2221-8435insATTATCTCAATCCTATTAT...
ENST00000684497.1:c.2186-15276_2186-15275insATTATCTCAATCCTATTAT ENSP00000507057.1:n.2186-15276_2186-15275insATTATCTCAATCCTATT...
ENST00000382292.9:c.5956_5957insATTATCTCAATCCTATTAT MANE Select ENSP00000371729.3:p.Val1986AspfsTer17
ENST00000423156.2:c.2186-8436_2186-8435insATTATCTCAATCCTATTAT ENSP00000390925.2:n.2186-8436_2186-8435insATTATCTCAATCCTATTAT...
ENST00000455470.6:c.2431+3525_2431+3526insATTATCTCAATCCTATTAT ENSP00000406565.2:n.2431+3525_2431+3526insATTATCTCAATCCTATTAT...
ENST00000382292.7:c.5956_5957insATTATCTCAATCCTATTAT ENSP00000371729.3:p.Val1986AspfsTer17
ENST00000382298.7:c.5956_5957insATTATCTCAATCCTATTAT ENSP00000371735.3:p.Val1986AspfsTer17
ENST00000402364.1:c.3706_3707insATTATCTCAATCCTATTAT ENSP00000385844.1:p.Val1236AspfsTer17
ENST00000423156.1:c.1058-8436_1058-8435insATTATCTCAATCCTATTAT ENSP00000390925.1:n.1058-8436_1058-8435insATTATCTCAATCCTATTAT...
ENST00000455470.5:c.2129+3525_2129+3526insATTATCTCAATCCTATTAT
NM_001278055.1:c.5515_5516insATTATCTCAATCCTATTAT NP_001264984.1:p.Val1839AspfsTer17
NM_014363.5:c.5956_5957insATTATCTCAATCCTATTAT NP_055178.3:p.Val1986AspfsTer17
XM_005266338.1:c.5983_5984insATTATCTCAATCCTATTAT XP_005266395.1:p.Val1995AspfsTer17
XM_011535038.1:c.6007_6008insATTATCTCAATCCTATTAT XP_011533340.1:p.Val2003AspfsTer17
XM_011535039.1:c.5974_5975insATTATCTCAATCCTATTAT XP_011533341.1:p.Val1992AspfsTer17
XM_005266338.2:c.5983_5984insATTATCTCAATCCTATTAT XP_005266395.1:p.Val1995AspfsTer17
XM_011535039.2:c.5974_5975insATTATCTCAATCCTATTAT XP_011533341.1:p.Val1992AspfsTer17
XM_017020539.1:c.5947_5948insATTATCTCAATCCTATTAT XP_016876028.1:p.Val1983AspfsTer17
XM_024449337.1:c.5983_5984insATTATCTCAATCCTATTAT XP_024305105.1:p.Val1995AspfsTer17
NM_014363.6:c.5956_5957insATTATCTCAATCCTATTAT MANE Select NP_055178.3:p.Val1986AspfsTer17
NM_001278055.2:c.5515_5516insATTATCTCAATCCTATTAT NP_001264984.1:p.Val1839AspfsTer17