Canonical Allele Identifier: CA2078621727
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334655_23334657delinsTCA , CM000675.2:g.23334655_23334657delinsTCA GRCh38
NC_000013.10:g.23908794_23908796delinsTCA , CM000675.1:g.23908794_23908796delinsTCA GRCh37
NC_000013.9:g.22806794_22806796delinsTCA NCBI36
NG_012342.1:g.104046_104048delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19128_2185+19130delinsTGA ENSP00000508399.1:n.2185+19128_2185+19130delinsTGA
ENST00000682944.1:c.9246_9248delinsTGA ENSP00000507173.1:p.Cys3082=
ENST00000683210.1:c.2185+19128_2185+19130delinsTGA ENSP00000506739.1:n.2185+19128_2185+19130delinsTGA
ENST00000683270.1:c.6445+2765_6445+2767delinsTGA ENSP00000507624.1:n.6445+2765_6445+2767delinsTGA
ENST00000683367.1:c.2177-5173_2177-5171delinsTGA ENSP00000507780.1:n.2177-5173_2177-5171delinsTGA
ENST00000683489.1:c.2292-4705_2292-4703delinsTGA ENSP00000508403.1:n.2292-4705_2292-4703delinsTGA
ENST00000683680.1:c.2319-4705_2319-4703delinsTGA ENSP00000507223.1:n.2319-4705_2319-4703delinsTGA
ENST00000684163.1:c.2204-5173_2204-5171delinsTGA ENSP00000508262.1:n.2204-5173_2204-5171delinsTGA
ENST00000684196.1:n.4543-5173_4543-5171delinsTGA
ENST00000684325.1:c.2186-12983_2186-12981delinsTGA ENSP00000508121.1:n.2186-12983_2186-12981delinsTGA
ENST00000684385.1:c.2221-5173_2221-5171delinsTGA ENSP00000507855.1:n.2221-5173_2221-5171delinsTGA
ENST00000684497.1:c.2186-12013_2186-12011delinsTGA ENSP00000507057.1:n.2186-12013_2186-12011delinsTGA
ENST00000382292.9:c.9219_9221delinsTGA MANE Select ENSP00000371729.3:p.Cys3073=
ENST00000423156.2:c.2186-5173_2186-5171delinsTGA ENSP00000390925.2:n.2186-5173_2186-5171delinsTGA
ENST00000455470.6:c.2432-5173_2432-5171delinsTGA ENSP00000406565.2:n.2432-5173_2432-5171delinsTGA
ENST00000382292.7:c.9219_9221delinsTGA ENSP00000371729.3:p.Cys3073=
ENST00000382298.7:c.9219_9221delinsTGA ENSP00000371735.3:p.Cys3073=
ENST00000402364.1:c.6969_6971delinsTGA ENSP00000385844.1:p.Cys2323=
ENST00000423156.1:c.1058-5173_1058-5171delinsTGA ENSP00000390925.1:n.1058-5173_1058-5171delinsTGA
ENST00000455470.5:c.2130-5173_2130-5171delinsTGA
NM_001278055.1:c.8778_8780delinsTGA NP_001264984.1:p.Cys2926=
NM_014363.5:c.9219_9221delinsTGA NP_055178.3:p.Cys3073=
XM_005266338.1:c.9246_9248delinsTGA XP_005266395.1:p.Cys3082=
XM_011535038.1:c.9270_9272delinsTGA XP_011533340.1:p.Cys3090=
XM_011535039.1:c.9237_9239delinsTGA XP_011533341.1:p.Cys3079=
XM_005266338.2:c.9246_9248delinsTGA XP_005266395.1:p.Cys3082=
XM_011535039.2:c.9237_9239delinsTGA XP_011533341.1:p.Cys3079=
XM_017020539.1:c.9210_9212delinsTGA XP_016876028.1:p.Cys3070=
XM_024449337.1:c.9246_9248delinsTGA XP_024305105.1:p.Cys3082=
NM_014363.6:c.9219_9221delinsTGA MANE Select NP_055178.3:p.Cys3073=
NM_001278055.2:c.8778_8780delinsTGA NP_001264984.1:p.Cys2926=