Canonical Allele Identifier: CA16041629
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371219
ClinVar RCV Id: RCV000409433
dbSNP Id: rs1057517099

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338092dup , CM000675.2:g.23338092dup GRCh38
NC_000013.10:g.23912231dup , CM000675.1:g.23912231dup GRCh37
NC_000013.9:g.22810231dup NCBI36
NG_012342.1:g.100611dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+15693dup ENSP00000508399.1:n.2185+15693dup
ENST00000682944.1:c.5811dup ENSP00000507173.1:p.Arg1938ThrfsTer6
ENST00000683210.1:c.2185+15693dup ENSP00000506739.1:n.2185+15693dup
ENST00000683270.1:c.5775dup ENSP00000507624.1:p.Arg1926ThrfsTer6
ENST00000683367.1:c.2177-8608dup ENSP00000507780.1:n.2177-8608dup
ENST00000683489.1:c.2291+3493dup ENSP00000508403.1:n.2291+3493dup
ENST00000683680.1:c.2318+3493dup ENSP00000507223.1:n.2318+3493dup
ENST00000684163.1:c.2204-8608dup ENSP00000508262.1:n.2204-8608dup
ENST00000684196.1:n.4543-8608dup
ENST00000684325.1:c.2185+15693dup ENSP00000508121.1:n.2185+15693dup
ENST00000684385.1:c.2221-8608dup ENSP00000507855.1:n.2221-8608dup
ENST00000684497.1:c.2186-15448dup ENSP00000507057.1:n.2186-15448dup
ENST00000382292.9:c.5784dup MANE Select ENSP00000371729.3:p.Arg1929ThrfsTer6
ENST00000423156.2:c.2186-8608dup ENSP00000390925.2:n.2186-8608dup
ENST00000455470.6:c.2431+3353dup ENSP00000406565.2:n.2431+3353dup
ENST00000382292.7:c.5784dup ENSP00000371729.3:p.Arg1929ThrfsTer6
ENST00000382298.7:c.5784dup ENSP00000371735.3:p.Arg1929ThrfsTer6
ENST00000402364.1:c.3534dup ENSP00000385844.1:p.Arg1179ThrfsTer6
ENST00000423156.1:c.1058-8608dup ENSP00000390925.1:n.1058-8608dup
ENST00000455470.5:c.2129+3353dup
NM_001278055.1:c.5343dup NP_001264984.1:p.Arg1782ThrfsTer6
NM_014363.5:c.5784dup NP_055178.3:p.Arg1929ThrfsTer6
XM_005266338.1:c.5811dup XP_005266395.1:p.Arg1938ThrfsTer6
XM_011535038.1:c.5835dup XP_011533340.1:p.Arg1946ThrfsTer6
XM_011535039.1:c.5802dup XP_011533341.1:p.Arg1935ThrfsTer6
XM_005266338.2:c.5811dup XP_005266395.1:p.Arg1938ThrfsTer6
XM_011535039.2:c.5802dup XP_011533341.1:p.Arg1935ThrfsTer6
XM_017020539.1:c.5775dup XP_016876028.1:p.Arg1926ThrfsTer6
XM_024449337.1:c.5811dup XP_024305105.1:p.Arg1938ThrfsTer6
NM_014363.6:c.5784dup MANE Select NP_055178.3:p.Arg1929ThrfsTer6
NM_001278055.2:c.5343dup NP_001264984.1:p.Arg1782ThrfsTer6