Canonical Allele Identifier: CA2994520963
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333875_23333876insCAGCTTTGGAACAGATTTTGTTCA , CM000675.2:g.23333875_23333876insCAGCTTTGGAACAGATTTTGTTCA GRCh38
NC_000013.10:g.23908014_23908015insCAGCTTTGGAACAGATTTTGTTCA , CM000675.1:g.23908014_23908015insCAGCTTTGGAACAGATTTTGTTCA GRCh37
NC_000013.9:g.22806014_22806015insCAGCTTTGGAACAGATTTTGTTCA NCBI36
NG_012342.1:g.104848_104849insCTGTGAACAAAATCTGTTCCAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19930_2185+19931insCTGTGAACAAAATCTGTTCCAAAG ENSP00000508399.1:n.2185+19930_2185+19931insCTGTGAACAAAATCTGT...
ENST00000682944.1:c.10048_10049insCTGTGAACAAAATCTGTTCCAAAG ENSP00000507173.1:p.Lys3349_Asp3350insAlaValAsnLysIleCysSerLy...
ENST00000683210.1:c.2185+19930_2185+19931insCTGTGAACAAAATCTGTTCCAAAG ENSP00000506739.1:n.2185+19930_2185+19931insCTGTGAACAAAATCTGT...
ENST00000683270.1:c.6445+3567_6445+3568insCTGTGAACAAAATCTGTTCCAAAG ENSP00000507624.1:n.6445+3567_6445+3568insCTGTGAACAAAATCTGTTC...
ENST00000683367.1:c.2177-4371_2177-4370insCTGTGAACAAAATCTGTTCCAAAG ENSP00000507780.1:n.2177-4371_2177-4370insCTGTGAACAAAATCTGTTC...
ENST00000683489.1:c.2292-3903_2292-3902insCTGTGAACAAAATCTGTTCCAAAG ENSP00000508403.1:n.2292-3903_2292-3902insCTGTGAACAAAATCTGTTC...
ENST00000683680.1:c.2319-3903_2319-3902insCTGTGAACAAAATCTGTTCCAAAG ENSP00000507223.1:n.2319-3903_2319-3902insCTGTGAACAAAATCTGTTC...
ENST00000684163.1:c.2204-4371_2204-4370insCTGTGAACAAAATCTGTTCCAAAG ENSP00000508262.1:n.2204-4371_2204-4370insCTGTGAACAAAATCTGTTC...
ENST00000684196.1:n.4543-4371_4543-4370insCTGTGAACAAAATCTGTTCCAAAG
ENST00000684325.1:c.2186-12181_2186-12180insCTGTGAACAAAATCTGTTCCAAAG ENSP00000508121.1:n.2186-12181_2186-12180insCTGTGAACAAAATCTGT...
ENST00000684385.1:c.2221-4371_2221-4370insCTGTGAACAAAATCTGTTCCAAAG ENSP00000507855.1:n.2221-4371_2221-4370insCTGTGAACAAAATCTGTTC...
ENST00000684497.1:c.2186-11211_2186-11210insCTGTGAACAAAATCTGTTCCAAAG ENSP00000507057.1:n.2186-11211_2186-11210insCTGTGAACAAAATCTGT...
ENST00000382292.9:c.10021_10022insCTGTGAACAAAATCTGTTCCAAAG MANE Select ENSP00000371729.3:p.Lys3340_Asp3341insAlaValAsnLysIleCysSerLy...
ENST00000423156.2:c.2186-4371_2186-4370insCTGTGAACAAAATCTGTTCCAAAG ENSP00000390925.2:n.2186-4371_2186-4370insCTGTGAACAAAATCTGTTC...
ENST00000455470.6:c.2432-4371_2432-4370insCTGTGAACAAAATCTGTTCCAAAG ENSP00000406565.2:n.2432-4371_2432-4370insCTGTGAACAAAATCTGTTC...
ENST00000382292.7:c.10021_10022insCTGTGAACAAAATCTGTTCCAAAG ENSP00000371729.3:p.Lys3340_Asp3341insAlaValAsnLysIleCysSerLy...
ENST00000382298.7:c.10021_10022insCTGTGAACAAAATCTGTTCCAAAG ENSP00000371735.3:p.Lys3340_Asp3341insAlaValAsnLysIleCysSerLy...
ENST00000402364.1:c.7771_7772insCTGTGAACAAAATCTGTTCCAAAG ENSP00000385844.1:p.Lys2590_Asp2591insAlaValAsnLysIleCysSerLy...
ENST00000423156.1:c.1058-4371_1058-4370insCTGTGAACAAAATCTGTTCCAAAG ENSP00000390925.1:n.1058-4371_1058-4370insCTGTGAACAAAATCTGTTC...
ENST00000455470.5:c.2130-4371_2130-4370insCTGTGAACAAAATCTGTTCCAAAG
NM_001278055.1:c.9580_9581insCTGTGAACAAAATCTGTTCCAAAG NP_001264984.1:p.Lys3193_Asp3194insAlaValAsnLysIleCysSerLys
NM_014363.5:c.10021_10022insCTGTGAACAAAATCTGTTCCAAAG NP_055178.3:p.Lys3340_Asp3341insAlaValAsnLysIleCysSerLys
XM_005266338.1:c.10048_10049insCTGTGAACAAAATCTGTTCCAAAG XP_005266395.1:p.Lys3349_Asp3350insAlaValAsnLysIleCysSerLys
XM_011535038.1:c.10072_10073insCTGTGAACAAAATCTGTTCCAAAG XP_011533340.1:p.Lys3357_Asp3358insAlaValAsnLysIleCysSerLys
XM_011535039.1:c.10039_10040insCTGTGAACAAAATCTGTTCCAAAG XP_011533341.1:p.Lys3346_Asp3347insAlaValAsnLysIleCysSerLys
XM_005266338.2:c.10048_10049insCTGTGAACAAAATCTGTTCCAAAG XP_005266395.1:p.Lys3349_Asp3350insAlaValAsnLysIleCysSerLys
XM_011535039.2:c.10039_10040insCTGTGAACAAAATCTGTTCCAAAG XP_011533341.1:p.Lys3346_Asp3347insAlaValAsnLysIleCysSerLys
XM_017020539.1:c.10012_10013insCTGTGAACAAAATCTGTTCCAAAG XP_016876028.1:p.Lys3337_Asp3338insAlaValAsnLysIleCysSerLys
XM_024449337.1:c.10048_10049insCTGTGAACAAAATCTGTTCCAAAG XP_024305105.1:p.Lys3349_Asp3350insAlaValAsnLysIleCysSerLys
NM_014363.6:c.10021_10022insCTGTGAACAAAATCTGTTCCAAAG MANE Select NP_055178.3:p.Lys3340_Asp3341insAlaValAsnLysIleCysSerLys
NM_001278055.2:c.9580_9581insCTGTGAACAAAATCTGTTCCAAAG NP_001264984.1:p.Lys3193_Asp3194insAlaValAsnLysIleCysSerLys