Canonical Allele Identifier: CA2078633166
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333414_23333415delinsGA , CM000675.2:g.23333414_23333415delinsGA GRCh38
NC_000013.10:g.23907553_23907554delinsGA , CM000675.1:g.23907553_23907554delinsGA GRCh37
NC_000013.9:g.22805553_22805554delinsGA NCBI36
NG_012342.1:g.105288_105289delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20370_2185+20371delinsTC ENSP00000508399.1:n.2185+20370_2185+20371delinsTC
ENST00000682944.1:c.10488_10489delinsTC ENSP00000507173.1:p.Asn3496=
ENST00000683210.1:c.2185+20370_2185+20371delinsTC ENSP00000506739.1:n.2185+20370_2185+20371delinsTC
ENST00000683270.1:c.6446-3931_6446-3930delinsTC ENSP00000507624.1:n.6446-3931_6446-3930delinsTC
ENST00000683367.1:c.2177-3931_2177-3930delinsTC ENSP00000507780.1:n.2177-3931_2177-3930delinsTC
ENST00000683489.1:c.2292-3463_2292-3462delinsTC ENSP00000508403.1:n.2292-3463_2292-3462delinsTC
ENST00000683680.1:c.2319-3463_2319-3462delinsTC ENSP00000507223.1:n.2319-3463_2319-3462delinsTC
ENST00000684163.1:c.2204-3931_2204-3930delinsTC ENSP00000508262.1:n.2204-3931_2204-3930delinsTC
ENST00000684196.1:n.4543-3931_4543-3930delinsTC
ENST00000684325.1:c.2186-11741_2186-11740delinsTC ENSP00000508121.1:n.2186-11741_2186-11740delinsTC
ENST00000684385.1:c.2221-3931_2221-3930delinsTC ENSP00000507855.1:n.2221-3931_2221-3930delinsTC
ENST00000684497.1:c.2186-10771_2186-10770delinsTC ENSP00000507057.1:n.2186-10771_2186-10770delinsTC
ENST00000382292.9:c.10461_10462delinsTC MANE Select ENSP00000371729.3:p.Asn3487=
ENST00000423156.2:c.2186-3931_2186-3930delinsTC ENSP00000390925.2:n.2186-3931_2186-3930delinsTC
ENST00000455470.6:c.2432-3931_2432-3930delinsTC ENSP00000406565.2:n.2432-3931_2432-3930delinsTC
ENST00000382292.7:c.10461_10462delinsTC ENSP00000371729.3:p.Asn3487=
ENST00000382298.7:c.10461_10462delinsTC ENSP00000371735.3:p.Asn3487=
ENST00000402364.1:c.8211_8212delinsTC ENSP00000385844.1:p.Asn2737=
ENST00000423156.1:c.1058-3931_1058-3930delinsTC ENSP00000390925.1:n.1058-3931_1058-3930delinsTC
ENST00000455470.5:c.2130-3931_2130-3930delinsTC
NM_001278055.1:c.10020_10021delinsTC NP_001264984.1:p.Asn3340=
NM_014363.5:c.10461_10462delinsTC NP_055178.3:p.Asn3487=
XM_005266338.1:c.10488_10489delinsTC XP_005266395.1:p.Asn3496=
XM_011535038.1:c.10512_10513delinsTC XP_011533340.1:p.Asn3504=
XM_011535039.1:c.10479_10480delinsTC XP_011533341.1:p.Asn3493=
XM_005266338.2:c.10488_10489delinsTC XP_005266395.1:p.Asn3496=
XM_011535039.2:c.10479_10480delinsTC XP_011533341.1:p.Asn3493=
XM_017020539.1:c.10452_10453delinsTC XP_016876028.1:p.Asn3484=
XM_024449337.1:c.10488_10489delinsTC XP_024305105.1:p.Asn3496=
NM_014363.6:c.10461_10462delinsTC MANE Select NP_055178.3:p.Asn3487=
NM_001278055.2:c.10020_10021delinsTC NP_001264984.1:p.Asn3340=