Canonical Allele Identifier: CA658823486

Gene: SACS

Linked Data

• ClinVar Variation Id: 549687
• ClinVar RCV Id: RCV000664233 ; RCV000691411
• dbSNP Id: rs1259615333
• gnomAD v3: 13-23340969-ACTGT-A
• gnomAD v4: 13-23340969-ACTGT-A
• MyVariant Identifiers: chr13:g.23915109_23915112del (hg19) ; chr13:g.23340970_23340973del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340972_23340975del , CM000675.2:g.23340972_23340975del	GRCh38
NC_000013.10:g.23915111_23915114del , CM000675.1:g.23915111_23915114del	GRCh37
NC_000013.9:g.22813111_22813114del	NCBI36
NG_012342.1:g.97730_97733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12812_2185+12815del	ENSP00000508399.1:n.2185+12812_2185+12815del
ENST00000682944.1:c.2930_2933del	ENSP00000507173.1:p.Asp977ValfsTer13
ENST00000683210.1:c.2185+12812_2185+12815del	ENSP00000506739.1:n.2185+12812_2185+12815del
ENST00000683270.1:c.2894_2897del	ENSP00000507624.1:p.Asp965ValfsTer13
ENST00000683367.1:c.2177-11489_2177-11486del	ENSP00000507780.1:n.2177-11489_2177-11486del
ENST00000683489.1:c.2291+612_2291+615del	ENSP00000508403.1:n.2291+612_2291+615del
ENST00000683680.1:c.2318+612_2318+615del	ENSP00000507223.1:n.2318+612_2318+615del
ENST00000684163.1:c.2203+5838_2203+5841del	ENSP00000508262.1:n.2203+5838_2203+5841del
ENST00000684196.1:n.4543-11489_4543-11486del
ENST00000684325.1:c.2185+12812_2185+12815del	ENSP00000508121.1:n.2185+12812_2185+12815del
ENST00000684385.1:c.2220+5838_2220+5841del	ENSP00000507855.1:n.2220+5838_2220+5841del
ENST00000684497.1:c.2185+12812_2185+12815del	ENSP00000507057.1:n.2185+12812_2185+12815del
ENST00000382292.9:c.2903_2906del MANE Select	ENSP00000371729.3:p.Asp968ValfsTer13
ENST00000423156.2:c.2186-11489_2186-11486del	ENSP00000390925.2:n.2186-11489_2186-11486del
ENST00000455470.6:c.2431+472_2431+475del	ENSP00000406565.2:n.2431+472_2431+475del
ENST00000382292.7:c.2903_2906del	ENSP00000371729.3:p.Asp968ValfsTer13
ENST00000382298.7:c.2903_2906del	ENSP00000371735.3:p.Asp968ValfsTer13
ENST00000402364.1:c.653_656del	ENSP00000385844.1:p.Asp218ValfsTer13
ENST00000423156.1:c.1058-11489_1058-11486del	ENSP00000390925.1:n.1058-11489_1058-11486del
ENST00000455470.5:c.2129+472_2129+475del
NM_001278055.1:c.2462_2465del	NP_001264984.1:p.Asp821ValfsTer13
NM_014363.5:c.2903_2906del	NP_055178.3:p.Asp968ValfsTer13
XM_005266338.1:c.2930_2933del	XP_005266395.1:p.Asp977ValfsTer13
XM_011535038.1:c.2954_2957del	XP_011533340.1:p.Asp985ValfsTer13
XM_011535039.1:c.2921_2924del	XP_011533341.1:p.Asp974ValfsTer13
XM_005266338.2:c.2930_2933del	XP_005266395.1:p.Asp977ValfsTer13
XM_011535039.2:c.2921_2924del	XP_011533341.1:p.Asp974ValfsTer13
XM_017020539.1:c.2894_2897del	XP_016876028.1:p.Asp965ValfsTer13
XM_024449337.1:c.2930_2933del	XP_024305105.1:p.Asp977ValfsTer13
NM_014363.6:c.2903_2906del MANE Select	NP_055178.3:p.Asp968ValfsTer13
NM_001278055.2:c.2462_2465del	NP_001264984.1:p.Asp821ValfsTer13