Canonical Allele Identifier: CA2078628741
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330901_23330903delinsTCG , CM000675.2:g.23330901_23330903delinsTCG GRCh38
NC_000013.10:g.23905040_23905042delinsTCG , CM000675.1:g.23905040_23905042delinsTCG GRCh37
NC_000013.9:g.22803040_22803042delinsTCG NCBI36
NG_012342.1:g.107800_107802delinsCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18788_2186-18786delinsCGA ENSP00000508399.1:n.2186-18788_2186-18786delinsCGA
ENST00000682944.1:c.13000_13002delinsCGA ENSP00000507173.1:p.Arg4334=
ENST00000683210.1:c.2185+22882_2185+22884delinsCGA ENSP00000506739.1:n.2185+22882_2185+22884delinsCGA
ENST00000683270.1:c.6446-1419_6446-1417delinsCGA ENSP00000507624.1:n.6446-1419_6446-1417delinsCGA
ENST00000683367.1:c.2177-1419_2177-1417delinsCGA ENSP00000507780.1:n.2177-1419_2177-1417delinsCGA
ENST00000683489.1:c.2292-951_2292-949delinsCGA ENSP00000508403.1:n.2292-951_2292-949delinsCGA
ENST00000683680.1:c.2319-951_2319-949delinsCGA ENSP00000507223.1:n.2319-951_2319-949delinsCGA
ENST00000684163.1:c.2204-1419_2204-1417delinsCGA ENSP00000508262.1:n.2204-1419_2204-1417delinsCGA
ENST00000684196.1:n.4543-1419_4543-1417delinsCGA
ENST00000684325.1:c.2186-9229_2186-9227delinsCGA ENSP00000508121.1:n.2186-9229_2186-9227delinsCGA
ENST00000684385.1:c.2221-1419_2221-1417delinsCGA ENSP00000507855.1:n.2221-1419_2221-1417delinsCGA
ENST00000684497.1:c.2186-8259_2186-8257delinsCGA ENSP00000507057.1:n.2186-8259_2186-8257delinsCGA
ENST00000382292.9:c.12973_12975delinsCGA MANE Select ENSP00000371729.3:p.Arg4325=
ENST00000423156.2:c.2186-1419_2186-1417delinsCGA ENSP00000390925.2:n.2186-1419_2186-1417delinsCGA
ENST00000455470.6:c.2432-1419_2432-1417delinsCGA ENSP00000406565.2:n.2432-1419_2432-1417delinsCGA
ENST00000382292.7:c.12973_12975delinsCGA ENSP00000371729.3:p.Arg4325=
ENST00000382298.7:c.12973_12975delinsCGA ENSP00000371735.3:p.Arg4325=
ENST00000402364.1:c.10723_10725delinsCGA ENSP00000385844.1:p.Arg3575=
ENST00000423156.1:c.1058-1419_1058-1417delinsCGA ENSP00000390925.1:n.1058-1419_1058-1417delinsCGA
ENST00000455470.5:c.2130-1419_2130-1417delinsCGA
NM_001278055.1:c.12532_12534delinsCGA NP_001264984.1:p.Arg4178=
NM_014363.5:c.12973_12975delinsCGA NP_055178.3:p.Arg4325=
XM_005266338.1:c.13000_13002delinsCGA XP_005266395.1:p.Arg4334=
XM_011535038.1:c.13024_13026delinsCGA XP_011533340.1:p.Arg4342=
XM_011535039.1:c.12991_12993delinsCGA XP_011533341.1:p.Arg4331=
XM_005266338.2:c.13000_13002delinsCGA XP_005266395.1:p.Arg4334=
XM_011535039.2:c.12991_12993delinsCGA XP_011533341.1:p.Arg4331=
XM_017020539.1:c.12964_12966delinsCGA XP_016876028.1:p.Arg4322=
XM_024449337.1:c.13000_13002delinsCGA XP_024305105.1:p.Arg4334=
NM_014363.6:c.12973_12975delinsCGA MANE Select NP_055178.3:p.Arg4325=
NM_001278055.2:c.12532_12534delinsCGA NP_001264984.1:p.Arg4178=