Canonical Allele Identifier: CA274434

Gene: SACS

Linked Data

• ClinVar Variation Id: 189157
• ClinVar RCV Id: RCV000169583 ; RCV001850406
• dbSNP Id: rs770866403
• ExAC: 13:23914686 A / AT
• gnomAD v2: 13-23914686-A-AT
• gnomAD v3: 13-23340547-A-AT
• gnomAD v4: 13-23340547-A-AT
• COSMIC: COSM4615931 ; COSM4615932
• MyVariant Identifiers: chr13:g.23914687dupT (hg19) ; chr13:g.23914687_23914688insT (hg19) ; chr13:g.23914686_23914687insT (hg19) ; chr13:g.23340548dupT (hg38) ; chr13:g.23340547_23340548insT (hg38)
• PubMed: PMID:12873855

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340555dup , CM000675.2:g.23340555dup	GRCh38
NC_000013.10:g.23914694dup , CM000675.1:g.23914694dup	GRCh37
NC_000013.9:g.22812694dup	NCBI36
NG_012342.1:g.98155dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13237dup	ENSP00000508399.1:n.2185+13237dup
ENST00000682944.1:c.3355dup	ENSP00000507173.1:p.Ile1119AsnfsTer2
ENST00000683210.1:c.2185+13237dup	ENSP00000506739.1:n.2185+13237dup
ENST00000683270.1:c.3319dup	ENSP00000507624.1:p.Ile1107AsnfsTer2
ENST00000683367.1:c.2177-11064dup	ENSP00000507780.1:n.2177-11064dup
ENST00000683489.1:c.2291+1037dup	ENSP00000508403.1:n.2291+1037dup
ENST00000683680.1:c.2318+1037dup	ENSP00000507223.1:n.2318+1037dup
ENST00000684163.1:c.2203+6263dup	ENSP00000508262.1:n.2203+6263dup
ENST00000684196.1:n.4543-11064dup
ENST00000684325.1:c.2185+13237dup	ENSP00000508121.1:n.2185+13237dup
ENST00000684385.1:c.2220+6263dup	ENSP00000507855.1:n.2220+6263dup
ENST00000684497.1:c.2185+13237dup	ENSP00000507057.1:n.2185+13237dup
ENST00000382292.9:c.3328dup MANE Select	ENSP00000371729.3:p.Ile1110AsnfsTer2
ENST00000423156.2:c.2186-11064dup	ENSP00000390925.2:n.2186-11064dup
ENST00000455470.6:c.2431+897dup	ENSP00000406565.2:n.2431+897dup
ENST00000382292.7:c.3328dup	ENSP00000371729.3:p.Ile1110AsnfsTer2
ENST00000382298.7:c.3328dup	ENSP00000371735.3:p.Ile1110AsnfsTer2
ENST00000402364.1:c.1078dup	ENSP00000385844.1:p.Ile360AsnfsTer2
ENST00000423156.1:c.1058-11064dup	ENSP00000390925.1:n.1058-11064dup
ENST00000455470.5:c.2129+897dup
NM_001278055.1:c.2887dup	NP_001264984.1:p.Ile963AsnfsTer2
NM_014363.5:c.3328dup	NP_055178.3:p.Ile1110AsnfsTer2
XM_005266338.1:c.3355dup	XP_005266395.1:p.Ile1119AsnfsTer2
XM_011535038.1:c.3379dup	XP_011533340.1:p.Ile1127AsnfsTer2
XM_011535039.1:c.3346dup	XP_011533341.1:p.Ile1116AsnfsTer2
XM_005266338.2:c.3355dup	XP_005266395.1:p.Ile1119AsnfsTer2
XM_011535039.2:c.3346dup	XP_011533341.1:p.Ile1116AsnfsTer2
XM_017020539.1:c.3319dup	XP_016876028.1:p.Ile1107AsnfsTer2
XM_024449337.1:c.3355dup	XP_024305105.1:p.Ile1119AsnfsTer2
NM_014363.6:c.3328dup MANE Select	NP_055178.3:p.Ile1110AsnfsTer2
NM_001278055.2:c.2887dup	NP_001264984.1:p.Ile963AsnfsTer2