Canonical Allele Identifier: CA2078622594
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23335082_23335083delinsGT , CM000675.2:g.23335082_23335083delinsGT GRCh38
NC_000013.10:g.23909221_23909222delinsGT , CM000675.1:g.23909221_23909222delinsGT GRCh37
NC_000013.9:g.22807221_22807222delinsGT NCBI36
NG_012342.1:g.103620_103621delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+18702_2185+18703delinsAC ENSP00000508399.1:n.2185+18702_2185+18703delinsAC
ENST00000682944.1:c.8820_8821delinsAC ENSP00000507173.1:p.Lys2940=
ENST00000683210.1:c.2185+18702_2185+18703delinsAC ENSP00000506739.1:n.2185+18702_2185+18703delinsAC
ENST00000683270.1:c.6445+2339_6445+2340delinsAC ENSP00000507624.1:n.6445+2339_6445+2340delinsAC
ENST00000683367.1:c.2177-5599_2177-5598delinsAC ENSP00000507780.1:n.2177-5599_2177-5598delinsAC
ENST00000683489.1:c.2292-5131_2292-5130delinsAC ENSP00000508403.1:n.2292-5131_2292-5130delinsAC
ENST00000683680.1:c.2319-5131_2319-5130delinsAC ENSP00000507223.1:n.2319-5131_2319-5130delinsAC
ENST00000684163.1:c.2204-5599_2204-5598delinsAC ENSP00000508262.1:n.2204-5599_2204-5598delinsAC
ENST00000684196.1:n.4543-5599_4543-5598delinsAC
ENST00000684325.1:c.2186-13409_2186-13408delinsAC ENSP00000508121.1:n.2186-13409_2186-13408delinsAC
ENST00000684385.1:c.2221-5599_2221-5598delinsAC ENSP00000507855.1:n.2221-5599_2221-5598delinsAC
ENST00000684497.1:c.2186-12439_2186-12438delinsAC ENSP00000507057.1:n.2186-12439_2186-12438delinsAC
ENST00000382292.9:c.8793_8794delinsAC MANE Select ENSP00000371729.3:p.Lys2931=
ENST00000423156.2:c.2186-5599_2186-5598delinsAC ENSP00000390925.2:n.2186-5599_2186-5598delinsAC
ENST00000455470.6:c.2432-5599_2432-5598delinsAC ENSP00000406565.2:n.2432-5599_2432-5598delinsAC
ENST00000382292.7:c.8793_8794delinsAC ENSP00000371729.3:p.Lys2931=
ENST00000382298.7:c.8793_8794delinsAC ENSP00000371735.3:p.Lys2931=
ENST00000402364.1:c.6543_6544delinsAC ENSP00000385844.1:p.Lys2181=
ENST00000423156.1:c.1058-5599_1058-5598delinsAC ENSP00000390925.1:n.1058-5599_1058-5598delinsAC
ENST00000455470.5:c.2130-5599_2130-5598delinsAC
NM_001278055.1:c.8352_8353delinsAC NP_001264984.1:p.Lys2784=
NM_014363.5:c.8793_8794delinsAC NP_055178.3:p.Lys2931=
XM_005266338.1:c.8820_8821delinsAC XP_005266395.1:p.Lys2940=
XM_011535038.1:c.8844_8845delinsAC XP_011533340.1:p.Lys2948=
XM_011535039.1:c.8811_8812delinsAC XP_011533341.1:p.Lys2937=
XM_005266338.2:c.8820_8821delinsAC XP_005266395.1:p.Lys2940=
XM_011535039.2:c.8811_8812delinsAC XP_011533341.1:p.Lys2937=
XM_017020539.1:c.8784_8785delinsAC XP_016876028.1:p.Lys2928=
XM_024449337.1:c.8820_8821delinsAC XP_024305105.1:p.Lys2940=
NM_014363.6:c.8793_8794delinsAC MANE Select NP_055178.3:p.Lys2931=
NM_001278055.2:c.8352_8353delinsAC NP_001264984.1:p.Lys2784=