Canonical Allele Identifier: CA2078642262

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340348_23340353delinsATCTCC , CM000675.2:g.23340348_23340353delinsATCTCC	GRCh38
NC_000013.10:g.23914487_23914492delinsATCTCC , CM000675.1:g.23914487_23914492delinsATCTCC	GRCh37
NC_000013.9:g.22812487_22812492delinsATCTCC	NCBI36
NG_012342.1:g.98350_98355delinsGGAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13432_2185+13437delinsGGAGAT	ENSP00000508399.1:n.2185+13432_2185+13437delinsGGAGAT
ENST00000682944.1:c.3550_3555delinsGGAGAT	ENSP00000507173.1:p.Gly1184=
ENST00000683210.1:c.2185+13432_2185+13437delinsGGAGAT	ENSP00000506739.1:n.2185+13432_2185+13437delinsGGAGAT
ENST00000683270.1:c.3514_3519delinsGGAGAT	ENSP00000507624.1:p.Gly1172=
ENST00000683367.1:c.2177-10869_2177-10864delinsGGAGAT	ENSP00000507780.1:n.2177-10869_2177-10864delinsGGAGAT
ENST00000683489.1:c.2291+1232_2291+1237delinsGGAGAT	ENSP00000508403.1:n.2291+1232_2291+1237delinsGGAGAT
ENST00000683680.1:c.2318+1232_2318+1237delinsGGAGAT	ENSP00000507223.1:n.2318+1232_2318+1237delinsGGAGAT
ENST00000684163.1:c.2203+6458_2203+6463delinsGGAGAT	ENSP00000508262.1:n.2203+6458_2203+6463delinsGGAGAT
ENST00000684196.1:n.4543-10869_4543-10864delinsGGAGAT
ENST00000684325.1:c.2185+13432_2185+13437delinsGGAGAT	ENSP00000508121.1:n.2185+13432_2185+13437delinsGGAGAT
ENST00000684385.1:c.2220+6458_2220+6463delinsGGAGAT	ENSP00000507855.1:n.2220+6458_2220+6463delinsGGAGAT
ENST00000684497.1:c.2185+13432_2185+13437delinsGGAGAT	ENSP00000507057.1:n.2185+13432_2185+13437delinsGGAGAT
ENST00000382292.9:c.3523_3528delinsGGAGAT MANE Select	ENSP00000371729.3:p.Gly1175=
ENST00000423156.2:c.2186-10869_2186-10864delinsGGAGAT	ENSP00000390925.2:n.2186-10869_2186-10864delinsGGAGAT
ENST00000455470.6:c.2431+1092_2431+1097delinsGGAGAT	ENSP00000406565.2:n.2431+1092_2431+1097delinsGGAGAT
ENST00000382292.7:c.3523_3528delinsGGAGAT	ENSP00000371729.3:p.Gly1175=
ENST00000382298.7:c.3523_3528delinsGGAGAT	ENSP00000371735.3:p.Gly1175=
ENST00000402364.1:c.1273_1278delinsGGAGAT	ENSP00000385844.1:p.Gly425=
ENST00000423156.1:c.1058-10869_1058-10864delinsGGAGAT	ENSP00000390925.1:n.1058-10869_1058-10864delinsGGAGAT
ENST00000455470.5:c.2129+1092_2129+1097delinsGGAGAT
NM_001278055.1:c.3082_3087delinsGGAGAT	NP_001264984.1:p.Gly1028=
NM_014363.5:c.3523_3528delinsGGAGAT	NP_055178.3:p.Gly1175=
XM_005266338.1:c.3550_3555delinsGGAGAT	XP_005266395.1:p.Gly1184=
XM_011535038.1:c.3574_3579delinsGGAGAT	XP_011533340.1:p.Gly1192=
XM_011535039.1:c.3541_3546delinsGGAGAT	XP_011533341.1:p.Gly1181=
XM_005266338.2:c.3550_3555delinsGGAGAT	XP_005266395.1:p.Gly1184=
XM_011535039.2:c.3541_3546delinsGGAGAT	XP_011533341.1:p.Gly1181=
XM_017020539.1:c.3514_3519delinsGGAGAT	XP_016876028.1:p.Gly1172=
XM_024449337.1:c.3550_3555delinsGGAGAT	XP_024305105.1:p.Gly1184=
NM_014363.6:c.3523_3528delinsGGAGAT MANE Select	NP_055178.3:p.Gly1175=
NM_001278055.2:c.3082_3087delinsGGAGAT	NP_001264984.1:p.Gly1028=