Canonical Allele Identifier: CA2078642715

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340547_23340548delinsAT , CM000675.2:g.23340547_23340548delinsAT	GRCh38
NC_000013.10:g.23914686_23914687delinsAT , CM000675.1:g.23914686_23914687delinsAT	GRCh37
NC_000013.9:g.22812686_22812687delinsAT	NCBI36
NG_012342.1:g.98155_98156delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13237_2185+13238delinsAT	ENSP00000508399.1:n.2185+13237_2185+13238delinsAT
ENST00000682944.1:c.3355_3356delinsAT	ENSP00000507173.1:p.Ile1119=
ENST00000683210.1:c.2185+13237_2185+13238delinsAT	ENSP00000506739.1:n.2185+13237_2185+13238delinsAT
ENST00000683270.1:c.3319_3320delinsAT	ENSP00000507624.1:p.Ile1107=
ENST00000683367.1:c.2177-11064_2177-11063delinsAT	ENSP00000507780.1:n.2177-11064_2177-11063delinsAT
ENST00000683489.1:c.2291+1037_2291+1038delinsAT	ENSP00000508403.1:n.2291+1037_2291+1038delinsAT
ENST00000683680.1:c.2318+1037_2318+1038delinsAT	ENSP00000507223.1:n.2318+1037_2318+1038delinsAT
ENST00000684163.1:c.2203+6263_2203+6264delinsAT	ENSP00000508262.1:n.2203+6263_2203+6264delinsAT
ENST00000684196.1:n.4543-11064_4543-11063delinsAT
ENST00000684325.1:c.2185+13237_2185+13238delinsAT	ENSP00000508121.1:n.2185+13237_2185+13238delinsAT
ENST00000684385.1:c.2220+6263_2220+6264delinsAT	ENSP00000507855.1:n.2220+6263_2220+6264delinsAT
ENST00000684497.1:c.2185+13237_2185+13238delinsAT	ENSP00000507057.1:n.2185+13237_2185+13238delinsAT
ENST00000382292.9:c.3328_3329delinsAT MANE Select	ENSP00000371729.3:p.Ile1110=
ENST00000423156.2:c.2186-11064_2186-11063delinsAT	ENSP00000390925.2:n.2186-11064_2186-11063delinsAT
ENST00000455470.6:c.2431+897_2431+898delinsAT	ENSP00000406565.2:n.2431+897_2431+898delinsAT
ENST00000382292.7:c.3328_3329delinsAT	ENSP00000371729.3:p.Ile1110=
ENST00000382298.7:c.3328_3329delinsAT	ENSP00000371735.3:p.Ile1110=
ENST00000402364.1:c.1078_1079delinsAT	ENSP00000385844.1:p.Ile360=
ENST00000423156.1:c.1058-11064_1058-11063delinsAT	ENSP00000390925.1:n.1058-11064_1058-11063delinsAT
ENST00000455470.5:c.2129+897_2129+898delinsAT
NM_001278055.1:c.2887_2888delinsAT	NP_001264984.1:p.Ile963=
NM_014363.5:c.3328_3329delinsAT	NP_055178.3:p.Ile1110=
XM_005266338.1:c.3355_3356delinsAT	XP_005266395.1:p.Ile1119=
XM_011535038.1:c.3379_3380delinsAT	XP_011533340.1:p.Ile1127=
XM_011535039.1:c.3346_3347delinsAT	XP_011533341.1:p.Ile1116=
XM_005266338.2:c.3355_3356delinsAT	XP_005266395.1:p.Ile1119=
XM_011535039.2:c.3346_3347delinsAT	XP_011533341.1:p.Ile1116=
XM_017020539.1:c.3319_3320delinsAT	XP_016876028.1:p.Ile1107=
XM_024449337.1:c.3355_3356delinsAT	XP_024305105.1:p.Ile1119=
NM_014363.6:c.3328_3329delinsAT MANE Select	NP_055178.3:p.Ile1110=
NM_001278055.2:c.2887_2888delinsAT	NP_001264984.1:p.Ile963=