Canonical Allele Identifier: CA912980152

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23914487_23914492del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340348_23340353del , CM000675.2:g.23340348_23340353del	GRCh38
NC_000013.10:g.23914487_23914492del , CM000675.1:g.23914487_23914492del	GRCh37
NC_000013.9:g.22812487_22812492del	NCBI36
NG_012342.1:g.98350_98355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13432_2185+13437del	ENSP00000508399.1:n.2185+13432_2185+13437del
ENST00000682944.1:c.3550_3555del	ENSP00000507173.1:p.Gly1184_Asp1185del
ENST00000683210.1:c.2185+13432_2185+13437del	ENSP00000506739.1:n.2185+13432_2185+13437del
ENST00000683270.1:c.3514_3519del	ENSP00000507624.1:p.Gly1172_Asp1173del
ENST00000683367.1:c.2177-10869_2177-10864del	ENSP00000507780.1:n.2177-10869_2177-10864del
ENST00000683489.1:c.2291+1232_2291+1237del	ENSP00000508403.1:n.2291+1232_2291+1237del
ENST00000683680.1:c.2318+1232_2318+1237del	ENSP00000507223.1:n.2318+1232_2318+1237del
ENST00000684163.1:c.2203+6458_2203+6463del	ENSP00000508262.1:n.2203+6458_2203+6463del
ENST00000684196.1:n.4543-10869_4543-10864del
ENST00000684325.1:c.2185+13432_2185+13437del	ENSP00000508121.1:n.2185+13432_2185+13437del
ENST00000684385.1:c.2220+6458_2220+6463del	ENSP00000507855.1:n.2220+6458_2220+6463del
ENST00000684497.1:c.2185+13432_2185+13437del	ENSP00000507057.1:n.2185+13432_2185+13437del
ENST00000382292.9:c.3523_3528del MANE Select	ENSP00000371729.3:p.Gly1175_Asp1176del
ENST00000423156.2:c.2186-10869_2186-10864del	ENSP00000390925.2:n.2186-10869_2186-10864del
ENST00000455470.6:c.2431+1092_2431+1097del	ENSP00000406565.2:n.2431+1092_2431+1097del
ENST00000382292.7:c.3523_3528del	ENSP00000371729.3:p.Gly1175_Asp1176del
ENST00000382298.7:c.3523_3528del	ENSP00000371735.3:p.Gly1175_Asp1176del
ENST00000402364.1:c.1273_1278del	ENSP00000385844.1:p.Gly425_Asp426del
ENST00000423156.1:c.1058-10869_1058-10864del	ENSP00000390925.1:n.1058-10869_1058-10864del
ENST00000455470.5:c.2129+1092_2129+1097del
NM_001278055.1:c.3082_3087del	NP_001264984.1:p.Gly1028_Asp1029del
NM_014363.5:c.3523_3528del	NP_055178.3:p.Gly1175_Asp1176del
XM_005266338.1:c.3550_3555del	XP_005266395.1:p.Gly1184_Asp1185del
XM_011535038.1:c.3574_3579del	XP_011533340.1:p.Gly1192_Asp1193del
XM_011535039.1:c.3541_3546del	XP_011533341.1:p.Gly1181_Asp1182del
XM_005266338.2:c.3550_3555del	XP_005266395.1:p.Gly1184_Asp1185del
XM_011535039.2:c.3541_3546del	XP_011533341.1:p.Gly1181_Asp1182del
XM_017020539.1:c.3514_3519del	XP_016876028.1:p.Gly1172_Asp1173del
XM_024449337.1:c.3550_3555del	XP_024305105.1:p.Gly1184_Asp1185del
NM_014363.6:c.3523_3528del MANE Select	NP_055178.3:p.Gly1175_Asp1176del
NM_001278055.2:c.3082_3087del	NP_001264984.1:p.Gly1028_Asp1029del