Canonical Allele Identifier: CA2078626082

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336712_23336714delinsGGT , CM000675.2:g.23336712_23336714delinsGGT	GRCh38
NC_000013.10:g.23910851_23910853delinsGGT , CM000675.1:g.23910851_23910853delinsGGT	GRCh37
NC_000013.9:g.22808851_22808853delinsGGT	NCBI36
NG_012342.1:g.101989_101991delinsACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17071_2185+17073delinsACC	ENSP00000508399.1:n.2185+17071_2185+17073delinsACC
ENST00000682944.1:c.7189_7191delinsACC	ENSP00000507173.1:p.Thr2397=
ENST00000683210.1:c.2185+17071_2185+17073delinsACC	ENSP00000506739.1:n.2185+17071_2185+17073delinsACC
ENST00000683270.1:c.6445+708_6445+710delinsACC	ENSP00000507624.1:n.6445+708_6445+710delinsACC
ENST00000683367.1:c.2177-7230_2177-7228delinsACC	ENSP00000507780.1:n.2177-7230_2177-7228delinsACC
ENST00000683489.1:c.2291+4871_2291+4873delinsACC	ENSP00000508403.1:n.2291+4871_2291+4873delinsACC
ENST00000683680.1:c.2318+4871_2318+4873delinsACC	ENSP00000507223.1:n.2318+4871_2318+4873delinsACC
ENST00000684163.1:c.2204-7230_2204-7228delinsACC	ENSP00000508262.1:n.2204-7230_2204-7228delinsACC
ENST00000684196.1:n.4543-7230_4543-7228delinsACC
ENST00000684325.1:c.2186-15040_2186-15038delinsACC	ENSP00000508121.1:n.2186-15040_2186-15038delinsACC
ENST00000684385.1:c.2221-7230_2221-7228delinsACC	ENSP00000507855.1:n.2221-7230_2221-7228delinsACC
ENST00000684497.1:c.2186-14070_2186-14068delinsACC	ENSP00000507057.1:n.2186-14070_2186-14068delinsACC
ENST00000382292.9:c.7162_7164delinsACC MANE Select	ENSP00000371729.3:p.Thr2388=
ENST00000423156.2:c.2186-7230_2186-7228delinsACC	ENSP00000390925.2:n.2186-7230_2186-7228delinsACC
ENST00000455470.6:c.2431+4731_2431+4733delinsACC	ENSP00000406565.2:n.2431+4731_2431+4733delinsACC
ENST00000382292.7:c.7162_7164delinsACC	ENSP00000371729.3:p.Thr2388=
ENST00000382298.7:c.7162_7164delinsACC	ENSP00000371735.3:p.Thr2388=
ENST00000402364.1:c.4912_4914delinsACC	ENSP00000385844.1:p.Thr1638=
ENST00000423156.1:c.1058-7230_1058-7228delinsACC	ENSP00000390925.1:n.1058-7230_1058-7228delinsACC
ENST00000455470.5:c.2129+4731_2129+4733delinsACC
NM_001278055.1:c.6721_6723delinsACC	NP_001264984.1:p.Thr2241=
NM_014363.5:c.7162_7164delinsACC	NP_055178.3:p.Thr2388=
XM_005266338.1:c.7189_7191delinsACC	XP_005266395.1:p.Thr2397=
XM_011535038.1:c.7213_7215delinsACC	XP_011533340.1:p.Thr2405=
XM_011535039.1:c.7180_7182delinsACC	XP_011533341.1:p.Thr2394=
XM_005266338.2:c.7189_7191delinsACC	XP_005266395.1:p.Thr2397=
XM_011535039.2:c.7180_7182delinsACC	XP_011533341.1:p.Thr2394=
XM_017020539.1:c.7153_7155delinsACC	XP_016876028.1:p.Thr2385=
XM_024449337.1:c.7189_7191delinsACC	XP_024305105.1:p.Thr2397=
NM_014363.6:c.7162_7164delinsACC MANE Select	NP_055178.3:p.Thr2388=
NM_001278055.2:c.6721_6723delinsACC	NP_001264984.1:p.Thr2241=