Canonical Allele Identifier: CA6910803

Gene: SACS

Linked Data

• ClinVar Variation Id: 994462
• ClinVar RCV Id: RCV001287920 ; RCV003750860
• dbSNP Id: rs779248938
• ExAC: 13:23909775 A / ATT
• gnomAD v2: 13-23909775-A-ATT
• gnomAD v3: 13-23335636-A-ATT
• gnomAD v4: 13-23335636-A-ATT
• MyVariant Identifiers: chr13:g.23909775_23909776insTT (hg19) ; chr13:g.23335636_23335637insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335641_23335642dup , CM000675.2:g.23335641_23335642dup	GRCh38
NC_000013.10:g.23909780_23909781dup , CM000675.1:g.23909780_23909781dup	GRCh37
NC_000013.9:g.22807780_22807781dup	NCBI36
NG_012342.1:g.103065_103066dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18147_2185+18148dup	ENSP00000508399.1:n.2185+18147_2185+18148dup
ENST00000682944.1:c.8265_8266dup	ENSP00000507173.1:p.Ile2756LysfsTer7
ENST00000683210.1:c.2185+18147_2185+18148dup	ENSP00000506739.1:n.2185+18147_2185+18148dup
ENST00000683270.1:c.6445+1784_6445+1785dup	ENSP00000507624.1:n.6445+1784_6445+1785dup
ENST00000683367.1:c.2177-6154_2177-6153dup	ENSP00000507780.1:n.2177-6154_2177-6153dup
ENST00000683489.1:c.2292-5686_2292-5685dup	ENSP00000508403.1:n.2292-5686_2292-5685dup
ENST00000683680.1:c.2319-5686_2319-5685dup	ENSP00000507223.1:n.2319-5686_2319-5685dup
ENST00000684163.1:c.2204-6154_2204-6153dup	ENSP00000508262.1:n.2204-6154_2204-6153dup
ENST00000684196.1:n.4543-6154_4543-6153dup
ENST00000684325.1:c.2186-13964_2186-13963dup	ENSP00000508121.1:n.2186-13964_2186-13963dup
ENST00000684385.1:c.2221-6154_2221-6153dup	ENSP00000507855.1:n.2221-6154_2221-6153dup
ENST00000684497.1:c.2186-12994_2186-12993dup	ENSP00000507057.1:n.2186-12994_2186-12993dup
ENST00000382292.9:c.8238_8239dup MANE Select	ENSP00000371729.3:p.Ile2747LysfsTer7
ENST00000423156.2:c.2186-6154_2186-6153dup	ENSP00000390925.2:n.2186-6154_2186-6153dup
ENST00000455470.6:c.2431+5807_2431+5808dup	ENSP00000406565.2:n.2431+5807_2431+5808dup
ENST00000382292.7:c.8238_8239dup	ENSP00000371729.3:p.Ile2747LysfsTer7
ENST00000382298.7:c.8238_8239dup	ENSP00000371735.3:p.Ile2747LysfsTer7
ENST00000402364.1:c.5988_5989dup	ENSP00000385844.1:p.Ile1997LysfsTer7
ENST00000423156.1:c.1058-6154_1058-6153dup	ENSP00000390925.1:n.1058-6154_1058-6153dup
ENST00000455470.5:c.2129+5807_2129+5808dup
NM_001278055.1:c.7797_7798dup	NP_001264984.1:p.Ile2600LysfsTer7
NM_014363.5:c.8238_8239dup	NP_055178.3:p.Ile2747LysfsTer7
XM_005266338.1:c.8265_8266dup	XP_005266395.1:p.Ile2756LysfsTer7
XM_011535038.1:c.8289_8290dup	XP_011533340.1:p.Ile2764LysfsTer7
XM_011535039.1:c.8256_8257dup	XP_011533341.1:p.Ile2753LysfsTer7
XM_005266338.2:c.8265_8266dup	XP_005266395.1:p.Ile2756LysfsTer7
XM_011535039.2:c.8256_8257dup	XP_011533341.1:p.Ile2753LysfsTer7
XM_017020539.1:c.8229_8230dup	XP_016876028.1:p.Ile2744LysfsTer7
XM_024449337.1:c.8265_8266dup	XP_024305105.1:p.Ile2756LysfsTer7
NM_014363.6:c.8238_8239dup MANE Select	NP_055178.3:p.Ile2747LysfsTer7
NM_001278055.2:c.7797_7798dup	NP_001264984.1:p.Ile2600LysfsTer7