Canonical Allele Identifier: CA2580086871

Gene: SACS

Linked Data

• ClinVar Variation Id: 2433132
• ClinVar RCV Id: RCV003133877

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339147dup , CM000675.2:g.23339147dup	GRCh38
NC_000013.10:g.23913286dup , CM000675.1:g.23913286dup	GRCh37
NC_000013.9:g.22811286dup	NCBI36
NG_012342.1:g.99557dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14639dup	ENSP00000508399.1:n.2185+14639dup
ENST00000682944.1:c.4757dup	ENSP00000507173.1:p.Met1587HisfsTer13
ENST00000683210.1:c.2185+14639dup	ENSP00000506739.1:n.2185+14639dup
ENST00000683270.1:c.4721dup	ENSP00000507624.1:p.Met1575HisfsTer13
ENST00000683367.1:c.2177-9662dup	ENSP00000507780.1:n.2177-9662dup
ENST00000683489.1:c.2291+2439dup	ENSP00000508403.1:n.2291+2439dup
ENST00000683680.1:c.2318+2439dup	ENSP00000507223.1:n.2318+2439dup
ENST00000684163.1:c.2203+7665dup	ENSP00000508262.1:n.2203+7665dup
ENST00000684196.1:n.4543-9662dup
ENST00000684325.1:c.2185+14639dup	ENSP00000508121.1:n.2185+14639dup
ENST00000684385.1:c.2220+7665dup	ENSP00000507855.1:n.2220+7665dup
ENST00000684497.1:c.2185+14639dup	ENSP00000507057.1:n.2185+14639dup
ENST00000382292.9:c.4730dup MANE Select	ENSP00000371729.3:p.Met1578HisfsTer13
ENST00000423156.2:c.2186-9662dup	ENSP00000390925.2:n.2186-9662dup
ENST00000455470.6:c.2431+2299dup	ENSP00000406565.2:n.2431+2299dup
ENST00000382292.7:c.4730dup	ENSP00000371729.3:p.Met1578HisfsTer13
ENST00000382298.7:c.4730dup	ENSP00000371735.3:p.Met1578HisfsTer13
ENST00000402364.1:c.2480dup	ENSP00000385844.1:p.Met828HisfsTer13
ENST00000423156.1:c.1058-9662dup	ENSP00000390925.1:n.1058-9662dup
ENST00000455470.5:c.2129+2299dup
NM_001278055.1:c.4289dup	NP_001264984.1:p.Met1431HisfsTer13
NM_014363.5:c.4730dup	NP_055178.3:p.Met1578HisfsTer13
XM_005266338.1:c.4757dup	XP_005266395.1:p.Met1587HisfsTer13
XM_011535038.1:c.4781dup	XP_011533340.1:p.Met1595HisfsTer13
XM_011535039.1:c.4748dup	XP_011533341.1:p.Met1584HisfsTer13
XM_005266338.2:c.4757dup	XP_005266395.1:p.Met1587HisfsTer13
XM_011535039.2:c.4748dup	XP_011533341.1:p.Met1584HisfsTer13
XM_017020539.1:c.4721dup	XP_016876028.1:p.Met1575HisfsTer13
XM_024449337.1:c.4757dup	XP_024305105.1:p.Met1587HisfsTer13
NM_014363.6:c.4730dup MANE Select	NP_055178.3:p.Met1578HisfsTer13
NM_001278055.2:c.4289dup	NP_001264984.1:p.Met1431HisfsTer13