Canonical Allele Identifier: CA483160687

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678580
• ClinVar RCV Id: RCV003472576
• COSMIC: COSM1665730 ; COSM1665731
• MyVariant Identifiers: chr13:g.23909945del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335809del , CM000675.2:g.23335809del	GRCh38
NC_000013.10:g.23909948del , CM000675.1:g.23909948del	GRCh37
NC_000013.9:g.22807948del	NCBI36
NG_012342.1:g.102897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17979del	ENSP00000508399.1:n.2185+17979del
ENST00000682944.1:c.8097del	ENSP00000507173.1:p.Phe2699LeufsTer?
ENST00000683210.1:c.2185+17979del	ENSP00000506739.1:n.2185+17979del
ENST00000683270.1:c.6445+1616del	ENSP00000507624.1:n.6445+1616del
ENST00000683367.1:c.2177-6322del	ENSP00000507780.1:n.2177-6322del
ENST00000683489.1:c.2291+5779del	ENSP00000508403.1:n.2291+5779del
ENST00000683680.1:c.2318+5779del	ENSP00000507223.1:n.2318+5779del
ENST00000684163.1:c.2204-6322del	ENSP00000508262.1:n.2204-6322del
ENST00000684196.1:n.4543-6322del
ENST00000684325.1:c.2186-14132del	ENSP00000508121.1:n.2186-14132del
ENST00000684385.1:c.2221-6322del	ENSP00000507855.1:n.2221-6322del
ENST00000684497.1:c.2186-13162del	ENSP00000507057.1:n.2186-13162del
ENST00000382292.9:c.8070del MANE Select	ENSP00000371729.3:p.Phe2690LeufsTer?
ENST00000423156.2:c.2186-6322del	ENSP00000390925.2:n.2186-6322del
ENST00000455470.6:c.2431+5639del	ENSP00000406565.2:n.2431+5639del
ENST00000382292.7:c.8070del	ENSP00000371729.3:p.Phe2690LeufsTer?
ENST00000382298.7:c.8070del	ENSP00000371735.3:p.Phe2690LeufsTer?
ENST00000402364.1:c.5820del	ENSP00000385844.1:p.Phe1940LeufsTer?
ENST00000423156.1:c.1058-6322del	ENSP00000390925.1:n.1058-6322del
ENST00000455470.5:c.2129+5639del
NM_001278055.1:c.7629del	NP_001264984.1:p.Phe2543LeufsTer?
NM_014363.5:c.8070del	NP_055178.3:p.Phe2690LeufsTer?
XM_005266338.1:c.8097del	XP_005266395.1:p.Phe2699LeufsTer?
XM_011535038.1:c.8121del	XP_011533340.1:p.Phe2707LeufsTer?
XM_011535039.1:c.8088del	XP_011533341.1:p.Phe2696LeufsTer?
XM_005266338.2:c.8097del	XP_005266395.1:p.Phe2699LeufsTer?
XM_011535039.2:c.8088del	XP_011533341.1:p.Phe2696LeufsTer?
XM_017020539.1:c.8061del	XP_016876028.1:p.Phe2687LeufsTer?
XM_024449337.1:c.8097del	XP_024305105.1:p.Phe2699LeufsTer?
NM_014363.6:c.8070del MANE Select	NP_055178.3:p.Phe2690LeufsTer?
NM_001278055.2:c.7629del	NP_001264984.1:p.Phe2543LeufsTer?