Canonical Allele Identifier: CA6910109

Gene: SACS

Linked Data

• ClinVar Variation Id: 1805182
• ClinVar RCV Id: RCV002471600 ; RCV002571457 ; RCV003111572
• dbSNP Id: rs775863207
• ExAC: 13:23905337 CTGATA / C
• gnomAD v2: 13-23905337-CTGATA-C
• gnomAD v3: 13-23331198-CTGATA-C
• gnomAD v4: 13-23331198-CTGATA-C
• MyVariant Identifiers: chr13:g.23905338_23905342del (hg19) ; chr13:g.23331199_23331203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331200_23331204del , CM000675.2:g.23331200_23331204del	GRCh38
NC_000013.10:g.23905339_23905343del , CM000675.1:g.23905339_23905343del	GRCh37
NC_000013.9:g.22803339_22803343del	NCBI36
NG_012342.1:g.107500_107504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19088_2186-19084del	ENSP00000508399.1:n.2186-19088_2186-19084del
ENST00000682944.1:c.12700_12704del	ENSP00000507173.1:p.Tyr4234AspfsTer6
ENST00000683210.1:c.2185+22582_2185+22586del	ENSP00000506739.1:n.2185+22582_2185+22586del
ENST00000683270.1:c.6446-1719_6446-1715del	ENSP00000507624.1:n.6446-1719_6446-1715del
ENST00000683367.1:c.2177-1719_2177-1715del	ENSP00000507780.1:n.2177-1719_2177-1715del
ENST00000683489.1:c.2292-1251_2292-1247del	ENSP00000508403.1:n.2292-1251_2292-1247del
ENST00000683680.1:c.2319-1251_2319-1247del	ENSP00000507223.1:n.2319-1251_2319-1247del
ENST00000684163.1:c.2204-1719_2204-1715del	ENSP00000508262.1:n.2204-1719_2204-1715del
ENST00000684196.1:n.4543-1719_4543-1715del
ENST00000684325.1:c.2186-9529_2186-9525del	ENSP00000508121.1:n.2186-9529_2186-9525del
ENST00000684385.1:c.2221-1719_2221-1715del	ENSP00000507855.1:n.2221-1719_2221-1715del
ENST00000684497.1:c.2186-8559_2186-8555del	ENSP00000507057.1:n.2186-8559_2186-8555del
ENST00000382292.9:c.12673_12677del MANE Select	ENSP00000371729.3:p.Tyr4225AspfsTer6
ENST00000423156.2:c.2186-1719_2186-1715del	ENSP00000390925.2:n.2186-1719_2186-1715del
ENST00000455470.6:c.2432-1719_2432-1715del	ENSP00000406565.2:n.2432-1719_2432-1715del
ENST00000382292.7:c.12673_12677del	ENSP00000371729.3:p.Tyr4225AspfsTer6
ENST00000382298.7:c.12673_12677del	ENSP00000371735.3:p.Tyr4225AspfsTer6
ENST00000402364.1:c.10423_10427del	ENSP00000385844.1:p.Tyr3475AspfsTer6
ENST00000423156.1:c.1058-1719_1058-1715del	ENSP00000390925.1:n.1058-1719_1058-1715del
ENST00000455470.5:c.2130-1719_2130-1715del
NM_001278055.1:c.12232_12236del	NP_001264984.1:p.Tyr4078AspfsTer6
NM_014363.5:c.12673_12677del	NP_055178.3:p.Tyr4225AspfsTer6
XM_005266338.1:c.12700_12704del	XP_005266395.1:p.Tyr4234AspfsTer6
XM_011535038.1:c.12724_12728del	XP_011533340.1:p.Tyr4242AspfsTer6
XM_011535039.1:c.12691_12695del	XP_011533341.1:p.Tyr4231AspfsTer6
XM_005266338.2:c.12700_12704del	XP_005266395.1:p.Tyr4234AspfsTer6
XM_011535039.2:c.12691_12695del	XP_011533341.1:p.Tyr4231AspfsTer6
XM_017020539.1:c.12664_12668del	XP_016876028.1:p.Tyr4222AspfsTer6
XM_024449337.1:c.12700_12704del	XP_024305105.1:p.Tyr4234AspfsTer6
NM_014363.6:c.12673_12677del MANE Select	NP_055178.3:p.Tyr4225AspfsTer6
NM_001278055.2:c.12232_12236del	NP_001264984.1:p.Tyr4078AspfsTer6