Canonical Allele Identifier: CA16041634
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371478
ClinVar RCV Id: RCV000409240
dbSNP Id: rs1057517305

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338802_23338803dup , CM000675.2:g.23338802_23338803dup GRCh38
NC_000013.10:g.23912941_23912942dup , CM000675.1:g.23912941_23912942dup GRCh37
NC_000013.9:g.22810941_22810942dup NCBI36
NG_012342.1:g.99900_99901dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+14982_2185+14983dup ENSP00000508399.1:n.2185+14982_2185+14983...
ENST00000682944.1:c.5100_5101dup ENSP00000507173.1:p.Ser1701CysfsTer5
ENST00000683210.1:c.2185+14982_2185+14983dup ENSP00000506739.1:n.2185+14982_2185+14983...
ENST00000683270.1:c.5064_5065dup ENSP00000507624.1:p.Ser1689CysfsTer5
ENST00000683367.1:c.2177-9319_2177-9318dup ENSP00000507780.1:n.2177-9319_2177-9318du...
ENST00000683489.1:c.2291+2782_2291+2783dup ENSP00000508403.1:n.2291+2782_2291+2783du...
ENST00000683680.1:c.2318+2782_2318+2783dup ENSP00000507223.1:n.2318+2782_2318+2783du...
ENST00000684163.1:c.2203+8008_2203+8009dup ENSP00000508262.1:n.2203+8008_2203+8009du...
ENST00000684196.1:n.4543-9319_4543-9318dup
ENST00000684325.1:c.2185+14982_2185+14983dup ENSP00000508121.1:n.2185+14982_2185+14983...
ENST00000684385.1:c.2220+8008_2220+8009dup ENSP00000507855.1:n.2220+8008_2220+8009du...
ENST00000684497.1:c.2185+14982_2185+14983dup ENSP00000507057.1:n.2185+14982_2185+14983...
ENST00000382292.9:c.5073_5074dup MANE Select ENSP00000371729.3:p.Ser1692CysfsTer5
ENST00000423156.2:c.2186-9319_2186-9318dup ENSP00000390925.2:n.2186-9319_2186-9318du...
ENST00000455470.6:c.2431+2642_2431+2643dup ENSP00000406565.2:n.2431+2642_2431+2643du...
ENST00000382292.7:c.5073_5074dup ENSP00000371729.3:p.Ser1692CysfsTer5
ENST00000382298.7:c.5073_5074dup ENSP00000371735.3:p.Ser1692CysfsTer5
ENST00000402364.1:c.2823_2824dup ENSP00000385844.1:p.Ser942CysfsTer5
ENST00000423156.1:c.1058-9319_1058-9318dup ENSP00000390925.1:n.1058-9319_1058-9318du...
ENST00000455470.5:c.2129+2642_2129+2643dup
NM_001278055.1:c.4632_4633dup NP_001264984.1:p.Ser1545CysfsTer5
NM_014363.5:c.5073_5074dup NP_055178.3:p.Ser1692CysfsTer5
XM_005266338.1:c.5100_5101dup XP_005266395.1:p.Ser1701CysfsTer5
XM_011535038.1:c.5124_5125dup XP_011533340.1:p.Ser1709CysfsTer5
XM_011535039.1:c.5091_5092dup XP_011533341.1:p.Ser1698CysfsTer5
XM_005266338.2:c.5100_5101dup XP_005266395.1:p.Ser1701CysfsTer5
XM_011535039.2:c.5091_5092dup XP_011533341.1:p.Ser1698CysfsTer5
XM_017020539.1:c.5064_5065dup XP_016876028.1:p.Ser1689CysfsTer5
XM_024449337.1:c.5100_5101dup XP_024305105.1:p.Ser1701CysfsTer5
NM_014363.6:c.5073_5074dup MANE Select NP_055178.3:p.Ser1692CysfsTer5
NM_001278055.2:c.4632_4633dup NP_001264984.1:p.Ser1545CysfsTer5