Canonical Allele Identifier: CA954042342

Gene: SACS

Linked Data

• dbSNP Id: rs1869092579
• gnomAD v3: 13-23340406-AC-A
• gnomAD v4: 13-23340406-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340409del , CM000675.2:g.23340409del	GRCh38
NC_000013.10:g.23914548del , CM000675.1:g.23914548del	GRCh37
NC_000013.9:g.22812548del	NCBI36
NG_012342.1:g.98296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13378del	ENSP00000508399.1:n.2185+13378del
ENST00000682944.1:c.3496del	ENSP00000507173.1:p.Val1166PhefsTer?
ENST00000683210.1:c.2185+13378del	ENSP00000506739.1:n.2185+13378del
ENST00000683270.1:c.3460del	ENSP00000507624.1:p.Val1154PhefsTer?
ENST00000683367.1:c.2177-10923del	ENSP00000507780.1:n.2177-10923del
ENST00000683489.1:c.2291+1178del	ENSP00000508403.1:n.2291+1178del
ENST00000683680.1:c.2318+1178del	ENSP00000507223.1:n.2318+1178del
ENST00000684163.1:c.2203+6404del	ENSP00000508262.1:n.2203+6404del
ENST00000684196.1:n.4543-10923del
ENST00000684325.1:c.2185+13378del	ENSP00000508121.1:n.2185+13378del
ENST00000684385.1:c.2220+6404del	ENSP00000507855.1:n.2220+6404del
ENST00000684497.1:c.2185+13378del	ENSP00000507057.1:n.2185+13378del
ENST00000382292.9:c.3469del MANE Select	ENSP00000371729.3:p.Val1157PhefsTer?
ENST00000423156.2:c.2186-10923del	ENSP00000390925.2:n.2186-10923del
ENST00000455470.6:c.2431+1038del	ENSP00000406565.2:n.2431+1038del
ENST00000382292.7:c.3469del	ENSP00000371729.3:p.Val1157PhefsTer?
ENST00000382298.7:c.3469del	ENSP00000371735.3:p.Val1157PhefsTer?
ENST00000402364.1:c.1219del	ENSP00000385844.1:p.Val407PhefsTer?
ENST00000423156.1:c.1058-10923del	ENSP00000390925.1:n.1058-10923del
ENST00000455470.5:c.2129+1038del
NM_001278055.1:c.3028del	NP_001264984.1:p.Val1010PhefsTer?
NM_014363.5:c.3469del	NP_055178.3:p.Val1157PhefsTer?
XM_005266338.1:c.3496del	XP_005266395.1:p.Val1166PhefsTer?
XM_011535038.1:c.3520del	XP_011533340.1:p.Val1174PhefsTer?
XM_011535039.1:c.3487del	XP_011533341.1:p.Val1163PhefsTer?
XM_005266338.2:c.3496del	XP_005266395.1:p.Val1166PhefsTer?
XM_011535039.2:c.3487del	XP_011533341.1:p.Val1163PhefsTer?
XM_017020539.1:c.3460del	XP_016876028.1:p.Val1154PhefsTer?
XM_024449337.1:c.3496del	XP_024305105.1:p.Val1166PhefsTer?
NM_014363.6:c.3469del MANE Select	NP_055178.3:p.Val1157PhefsTer?
NM_001278055.2:c.3028del	NP_001264984.1:p.Val1010PhefsTer?