Canonical Allele Identifier: CA2573149109

Gene: SACS

Linked Data

• ClinVar Variation Id: 1457101
• ClinVar RCV Id: RCV001953580
• dbSNP Id: rs797045938

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339758_23339759delinsTA , CM000675.2:g.23339758_23339759delinsTA	GRCh38
NC_000013.10:g.23913897_23913898delinsTA , CM000675.1:g.23913897_23913898delinsTA	GRCh37
NC_000013.9:g.22811897_22811898delinsTA	NCBI36
NG_012342.1:g.98944_98945delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14026_2185+14027delinsTA	ENSP00000508399.1:n.2185+14026_2185+14027...
ENST00000682944.1:c.4144_4145delinsTA	ENSP00000507173.1:p.Ala1382Ter
ENST00000683210.1:c.2185+14026_2185+14027delinsTA	ENSP00000506739.1:n.2185+14026_2185+14027...
ENST00000683270.1:c.4108_4109delinsTA	ENSP00000507624.1:p.Ala1370Ter
ENST00000683367.1:c.2177-10275_2177-10274delinsTA	ENSP00000507780.1:n.2177-10275_2177-10274...
ENST00000683489.1:c.2291+1826_2291+1827delinsTA	ENSP00000508403.1:n.2291+1826_2291+1827de...
ENST00000683680.1:c.2318+1826_2318+1827delinsTA	ENSP00000507223.1:n.2318+1826_2318+1827de...
ENST00000684163.1:c.2203+7052_2203+7053delinsTA	ENSP00000508262.1:n.2203+7052_2203+7053de...
ENST00000684196.1:n.4543-10275_4543-10274delinsTA
ENST00000684325.1:c.2185+14026_2185+14027delinsTA	ENSP00000508121.1:n.2185+14026_2185+14027...
ENST00000684385.1:c.2220+7052_2220+7053delinsTA	ENSP00000507855.1:n.2220+7052_2220+7053de...
ENST00000684497.1:c.2185+14026_2185+14027delinsTA	ENSP00000507057.1:n.2185+14026_2185+14027...
ENST00000382292.9:c.4117_4118delinsTA MANE Select	ENSP00000371729.3:p.Ala1373Ter
ENST00000423156.2:c.2186-10275_2186-10274delinsTA	ENSP00000390925.2:n.2186-10275_2186-10274...
ENST00000455470.6:c.2431+1686_2431+1687delinsTA	ENSP00000406565.2:n.2431+1686_2431+1687de...
ENST00000382292.7:c.4117_4118delinsTA	ENSP00000371729.3:p.Ala1373Ter
ENST00000382298.7:c.4117_4118delinsTA	ENSP00000371735.3:p.Ala1373Ter
ENST00000402364.1:c.1867_1868delinsTA	ENSP00000385844.1:p.Ala623Ter
ENST00000423156.1:c.1058-10275_1058-10274delinsTA	ENSP00000390925.1:n.1058-10275_1058-10274...
ENST00000455470.5:c.2129+1686_2129+1687delinsTA
NM_001278055.1:c.3676_3677delinsTA	NP_001264984.1:p.Ala1226Ter
NM_014363.5:c.4117_4118delinsTA	NP_055178.3:p.Ala1373Ter
XM_005266338.1:c.4144_4145delinsTA	XP_005266395.1:p.Ala1382Ter
XM_011535038.1:c.4168_4169delinsTA	XP_011533340.1:p.Ala1390Ter
XM_011535039.1:c.4135_4136delinsTA	XP_011533341.1:p.Ala1379Ter
XM_005266338.2:c.4144_4145delinsTA	XP_005266395.1:p.Ala1382Ter
XM_011535039.2:c.4135_4136delinsTA	XP_011533341.1:p.Ala1379Ter
XM_017020539.1:c.4108_4109delinsTA	XP_016876028.1:p.Ala1370Ter
XM_024449337.1:c.4144_4145delinsTA	XP_024305105.1:p.Ala1382Ter
NM_014363.6:c.4117_4118delinsTA MANE Select	NP_055178.3:p.Ala1373Ter
NM_001278055.2:c.3676_3677delinsTA	NP_001264984.1:p.Ala1226Ter