Canonical Allele Identifier: CA2078627582
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337423_23337428delinsTAACTG , CM000675.2:g.23337423_23337428delinsTAACTG GRCh38
NC_000013.10:g.23911562_23911567delinsTAACTG , CM000675.1:g.23911562_23911567delinsTAACTG GRCh37
NC_000013.9:g.22809562_22809567delinsTAACTG NCBI36
NG_012342.1:g.101275_101280delinsCAGTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+16357_2185+16362delinsCAGTTA ENSP00000508399.1:n.2185+16357_2185+16362...
ENST00000682944.1:c.6475_6480delinsCAGTTA ENSP00000507173.1:p.Gln2159=
ENST00000683210.1:c.2185+16357_2185+16362delinsCAGTTA ENSP00000506739.1:n.2185+16357_2185+16362...
ENST00000683270.1:c.6439_6444delinsCAGTTA ENSP00000507624.1:p.Gln2147=
ENST00000683367.1:c.2177-7944_2177-7939delinsCAGTTA ENSP00000507780.1:n.2177-7944_2177-7939de...
ENST00000683489.1:c.2291+4157_2291+4162delinsCAGTTA ENSP00000508403.1:n.2291+4157_2291+4162de...
ENST00000683680.1:c.2318+4157_2318+4162delinsCAGTTA ENSP00000507223.1:n.2318+4157_2318+4162de...
ENST00000684163.1:c.2204-7944_2204-7939delinsCAGTTA ENSP00000508262.1:n.2204-7944_2204-7939de...
ENST00000684196.1:n.4543-7944_4543-7939delinsCAGTTA
ENST00000684325.1:c.2186-15754_2186-15749delinsCAGTTA ENSP00000508121.1:n.2186-15754_2186-15749...
ENST00000684385.1:c.2221-7944_2221-7939delinsCAGTTA ENSP00000507855.1:n.2221-7944_2221-7939de...
ENST00000684497.1:c.2186-14784_2186-14779delinsCAGTTA ENSP00000507057.1:n.2186-14784_2186-14779...
ENST00000382292.9:c.6448_6453delinsCAGTTA MANE Select ENSP00000371729.3:p.Gln2150=
ENST00000423156.2:c.2186-7944_2186-7939delinsCAGTTA ENSP00000390925.2:n.2186-7944_2186-7939de...
ENST00000455470.6:c.2431+4017_2431+4022delinsCAGTTA ENSP00000406565.2:n.2431+4017_2431+4022de...
ENST00000382292.7:c.6448_6453delinsCAGTTA ENSP00000371729.3:p.Gln2150=
ENST00000382298.7:c.6448_6453delinsCAGTTA ENSP00000371735.3:p.Gln2150=
ENST00000402364.1:c.4198_4203delinsCAGTTA ENSP00000385844.1:p.Gln1400=
ENST00000423156.1:c.1058-7944_1058-7939delinsCAGTTA ENSP00000390925.1:n.1058-7944_1058-7939de...
ENST00000455470.5:c.2129+4017_2129+4022delinsCAGTTA
NM_001278055.1:c.6007_6012delinsCAGTTA NP_001264984.1:p.Gln2003=
NM_014363.5:c.6448_6453delinsCAGTTA NP_055178.3:p.Gln2150=
XM_005266338.1:c.6475_6480delinsCAGTTA XP_005266395.1:p.Gln2159=
XM_011535038.1:c.6499_6504delinsCAGTTA XP_011533340.1:p.Gln2167=
XM_011535039.1:c.6466_6471delinsCAGTTA XP_011533341.1:p.Gln2156=
XM_005266338.2:c.6475_6480delinsCAGTTA XP_005266395.1:p.Gln2159=
XM_011535039.2:c.6466_6471delinsCAGTTA XP_011533341.1:p.Gln2156=
XM_017020539.1:c.6439_6444delinsCAGTTA XP_016876028.1:p.Gln2147=
XM_024449337.1:c.6475_6480delinsCAGTTA XP_024305105.1:p.Gln2159=
NM_014363.6:c.6448_6453delinsCAGTTA MANE Select NP_055178.3:p.Gln2150=
NM_001278055.2:c.6007_6012delinsCAGTTA NP_001264984.1:p.Gln2003=