Canonical Allele Identifier: CA2536568811
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333335_23333336insAATGATTTCTT , CM000675.2:g.23333335_23333336insAATGATTTCTT GRCh38
NC_000013.10:g.23907474_23907475insAATGATTTCTT , CM000675.1:g.23907474_23907475insAATGATTTCTT GRCh37
NC_000013.9:g.22805474_22805475insAATGATTTCTT NCBI36
NG_012342.1:g.105368_105369insAGAAATCATTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20450_2185+20451insAGAAATCATTA ENSP00000508399.1:n.2185+20450_2185+20451insAGAAATCATTA
ENST00000682944.1:c.10568_10569insAGAAATCATTA ENSP00000507173.1:p.Gln3525IlefsTer14
ENST00000683210.1:c.2185+20450_2185+20451insAGAAATCATTA ENSP00000506739.1:n.2185+20450_2185+20451insAGAAATCATTA
ENST00000683270.1:c.6446-3851_6446-3850insAGAAATCATTA ENSP00000507624.1:n.6446-3851_6446-3850insAGAAATCATTA
ENST00000683367.1:c.2177-3851_2177-3850insAGAAATCATTA ENSP00000507780.1:n.2177-3851_2177-3850insAGAAATCATTA
ENST00000683489.1:c.2292-3383_2292-3382insAGAAATCATTA ENSP00000508403.1:n.2292-3383_2292-3382insAGAAATCATTA
ENST00000683680.1:c.2319-3383_2319-3382insAGAAATCATTA ENSP00000507223.1:n.2319-3383_2319-3382insAGAAATCATTA
ENST00000684163.1:c.2204-3851_2204-3850insAGAAATCATTA ENSP00000508262.1:n.2204-3851_2204-3850insAGAAATCATTA
ENST00000684196.1:n.4543-3851_4543-3850insAGAAATCATTA
ENST00000684325.1:c.2186-11661_2186-11660insAGAAATCATTA ENSP00000508121.1:n.2186-11661_2186-11660insAGAAATCATTA
ENST00000684385.1:c.2221-3851_2221-3850insAGAAATCATTA ENSP00000507855.1:n.2221-3851_2221-3850insAGAAATCATTA
ENST00000684497.1:c.2186-10691_2186-10690insAGAAATCATTA ENSP00000507057.1:n.2186-10691_2186-10690insAGAAATCATTA
ENST00000382292.9:c.10541_10542insAGAAATCATTA MANE Select ENSP00000371729.3:p.Gln3516IlefsTer14
ENST00000423156.2:c.2186-3851_2186-3850insAGAAATCATTA ENSP00000390925.2:n.2186-3851_2186-3850insAGAAATCATTA
ENST00000455470.6:c.2432-3851_2432-3850insAGAAATCATTA ENSP00000406565.2:n.2432-3851_2432-3850insAGAAATCATTA
ENST00000382292.7:c.10541_10542insAGAAATCATTA ENSP00000371729.3:p.Gln3516IlefsTer14
ENST00000382298.7:c.10541_10542insAGAAATCATTA ENSP00000371735.3:p.Gln3516IlefsTer14
ENST00000402364.1:c.8291_8292insAGAAATCATTA ENSP00000385844.1:p.Gln2766IlefsTer14
ENST00000423156.1:c.1058-3851_1058-3850insAGAAATCATTA ENSP00000390925.1:n.1058-3851_1058-3850insAGAAATCATTA
ENST00000455470.5:c.2130-3851_2130-3850insAGAAATCATTA
NM_001278055.1:c.10100_10101insAGAAATCATTA NP_001264984.1:p.Gln3369IlefsTer14
NM_014363.5:c.10541_10542insAGAAATCATTA NP_055178.3:p.Gln3516IlefsTer14
XM_005266338.1:c.10568_10569insAGAAATCATTA XP_005266395.1:p.Gln3525IlefsTer14
XM_011535038.1:c.10592_10593insAGAAATCATTA XP_011533340.1:p.Gln3533IlefsTer14
XM_011535039.1:c.10559_10560insAGAAATCATTA XP_011533341.1:p.Gln3522IlefsTer14
XM_005266338.2:c.10568_10569insAGAAATCATTA XP_005266395.1:p.Gln3525IlefsTer14
XM_011535039.2:c.10559_10560insAGAAATCATTA XP_011533341.1:p.Gln3522IlefsTer14
XM_017020539.1:c.10532_10533insAGAAATCATTA XP_016876028.1:p.Gln3513IlefsTer14
XM_024449337.1:c.10568_10569insAGAAATCATTA XP_024305105.1:p.Gln3525IlefsTer14
NM_014363.6:c.10541_10542insAGAAATCATTA MANE Select NP_055178.3:p.Gln3516IlefsTer14
NM_001278055.2:c.10100_10101insAGAAATCATTA NP_001264984.1:p.Gln3369IlefsTer14