Canonical Allele Identifier: CA2078630321

Gene: SACS

Linked Data

• ClinVar Variation Id: 1687226
• ClinVar RCV Id: RCV002250908
• dbSNP Id: rs1868917066
• gnomAD v4: 13-23338837-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338840_23338841del , CM000675.2:g.23338840_23338841del	GRCh38
NC_000013.10:g.23912979_23912980del , CM000675.1:g.23912979_23912980del	GRCh37
NC_000013.9:g.22810979_22810980del	NCBI36
NG_012342.1:g.99864_99865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14946_2185+14947del	ENSP00000508399.1:n.2185+14946_2185+14947del
ENST00000682944.1:c.5064_5065del	ENSP00000507173.1:p.Cys1688TrpfsTer22
ENST00000683210.1:c.2185+14946_2185+14947del	ENSP00000506739.1:n.2185+14946_2185+14947del
ENST00000683270.1:c.5028_5029del	ENSP00000507624.1:p.Cys1676TrpfsTer22
ENST00000683367.1:c.2177-9355_2177-9354del	ENSP00000507780.1:n.2177-9355_2177-9354del
ENST00000683489.1:c.2291+2746_2291+2747del	ENSP00000508403.1:n.2291+2746_2291+2747del
ENST00000683680.1:c.2318+2746_2318+2747del	ENSP00000507223.1:n.2318+2746_2318+2747del
ENST00000684163.1:c.2203+7972_2203+7973del	ENSP00000508262.1:n.2203+7972_2203+7973del
ENST00000684196.1:n.4543-9355_4543-9354del
ENST00000684325.1:c.2185+14946_2185+14947del	ENSP00000508121.1:n.2185+14946_2185+14947del
ENST00000684385.1:c.2220+7972_2220+7973del	ENSP00000507855.1:n.2220+7972_2220+7973del
ENST00000684497.1:c.2185+14946_2185+14947del	ENSP00000507057.1:n.2185+14946_2185+14947del
ENST00000382292.9:c.5037_5038del MANE Select	ENSP00000371729.3:p.Cys1679TrpfsTer22
ENST00000423156.2:c.2186-9355_2186-9354del	ENSP00000390925.2:n.2186-9355_2186-9354del
ENST00000455470.6:c.2431+2606_2431+2607del	ENSP00000406565.2:n.2431+2606_2431+2607del
ENST00000382292.7:c.5037_5038del	ENSP00000371729.3:p.Cys1679TrpfsTer22
ENST00000382298.7:c.5037_5038del	ENSP00000371735.3:p.Cys1679TrpfsTer22
ENST00000402364.1:c.2787_2788del	ENSP00000385844.1:p.Cys929TrpfsTer22
ENST00000423156.1:c.1058-9355_1058-9354del	ENSP00000390925.1:n.1058-9355_1058-9354del
ENST00000455470.5:c.2129+2606_2129+2607del
NM_001278055.1:c.4596_4597del	NP_001264984.1:p.Cys1532TrpfsTer22
NM_014363.5:c.5037_5038del	NP_055178.3:p.Cys1679TrpfsTer22
XM_005266338.1:c.5064_5065del	XP_005266395.1:p.Cys1688TrpfsTer22
XM_011535038.1:c.5088_5089del	XP_011533340.1:p.Cys1696TrpfsTer22
XM_011535039.1:c.5055_5056del	XP_011533341.1:p.Cys1685TrpfsTer22
XM_005266338.2:c.5064_5065del	XP_005266395.1:p.Cys1688TrpfsTer22
XM_011535039.2:c.5055_5056del	XP_011533341.1:p.Cys1685TrpfsTer22
XM_017020539.1:c.5028_5029del	XP_016876028.1:p.Cys1676TrpfsTer22
XM_024449337.1:c.5064_5065del	XP_024305105.1:p.Cys1688TrpfsTer22
NM_014363.6:c.5037_5038del MANE Select	NP_055178.3:p.Cys1679TrpfsTer22
NM_001278055.2:c.4596_4597del	NP_001264984.1:p.Cys1532TrpfsTer22