Canonical Allele Identifier: CA16041613
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371167
dbSNP Id: rs1057517060

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334788_23334789dup , CM000675.2:g.23334788_23334789dup GRCh38
NC_000013.10:g.23908927_23908928dup , CM000675.1:g.23908927_23908928dup GRCh37
NC_000013.9:g.22806927_22806928dup NCBI36
NG_012342.1:g.103915_103916dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+18997_2185+18998dup ENSP00000508399.1:n.2185+18997_2185+18998...
ENST00000682944.1:c.9115_9116dup ENSP00000507173.1:p.Leu3039PhefsTer23
ENST00000683210.1:c.2185+18997_2185+18998dup ENSP00000506739.1:n.2185+18997_2185+18998...
ENST00000683270.1:c.6445+2634_6445+2635dup ENSP00000507624.1:n.6445+2634_6445+2635du...
ENST00000683367.1:c.2177-5304_2177-5303dup ENSP00000507780.1:n.2177-5304_2177-5303du...
ENST00000683489.1:c.2292-4836_2292-4835dup ENSP00000508403.1:n.2292-4836_2292-4835du...
ENST00000683680.1:c.2319-4836_2319-4835dup ENSP00000507223.1:n.2319-4836_2319-4835du...
ENST00000684163.1:c.2204-5304_2204-5303dup ENSP00000508262.1:n.2204-5304_2204-5303du...
ENST00000684196.1:n.4543-5304_4543-5303dup
ENST00000684325.1:c.2186-13114_2186-13113dup ENSP00000508121.1:n.2186-13114_2186-13113...
ENST00000684385.1:c.2221-5304_2221-5303dup ENSP00000507855.1:n.2221-5304_2221-5303du...
ENST00000684497.1:c.2186-12144_2186-12143dup ENSP00000507057.1:n.2186-12144_2186-12143...
ENST00000382292.9:c.9088_9089dup MANE Select ENSP00000371729.3:p.Leu3030PhefsTer23
ENST00000423156.2:c.2186-5304_2186-5303dup ENSP00000390925.2:n.2186-5304_2186-5303du...
ENST00000455470.6:c.2432-5304_2432-5303dup ENSP00000406565.2:n.2432-5304_2432-5303du...
ENST00000382292.7:c.9088_9089dup ENSP00000371729.3:p.Leu3030PhefsTer23
ENST00000382298.7:c.9088_9089dup ENSP00000371735.3:p.Leu3030PhefsTer23
ENST00000402364.1:c.6838_6839dup ENSP00000385844.1:p.Leu2280PhefsTer23
ENST00000423156.1:c.1058-5304_1058-5303dup ENSP00000390925.1:n.1058-5304_1058-5303du...
ENST00000455470.5:c.2130-5304_2130-5303dup
NM_001278055.1:c.8647_8648dup NP_001264984.1:p.Leu2883PhefsTer23
NM_014363.5:c.9088_9089dup NP_055178.3:p.Leu3030PhefsTer23
XM_005266338.1:c.9115_9116dup XP_005266395.1:p.Leu3039PhefsTer23
XM_011535038.1:c.9139_9140dup XP_011533340.1:p.Leu3047PhefsTer23
XM_011535039.1:c.9106_9107dup XP_011533341.1:p.Leu3036PhefsTer23
XM_005266338.2:c.9115_9116dup XP_005266395.1:p.Leu3039PhefsTer23
XM_011535039.2:c.9106_9107dup XP_011533341.1:p.Leu3036PhefsTer23
XM_017020539.1:c.9079_9080dup XP_016876028.1:p.Leu3027PhefsTer23
XM_024449337.1:c.9115_9116dup XP_024305105.1:p.Leu3039PhefsTer23
NM_014363.6:c.9088_9089dup MANE Select NP_055178.3:p.Leu3030PhefsTer23
NM_001278055.2:c.8647_8648dup NP_001264984.1:p.Leu2883PhefsTer23