Canonical Allele Identifier: CA2573149144

Gene: SACS

Linked Data

• ClinVar Variation Id: 1453383
• ClinVar RCV Id: RCV002002380
• dbSNP Id: rs2137610861

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337574del , CM000675.2:g.23337574del	GRCh38
NC_000013.10:g.23911713del , CM000675.1:g.23911713del	GRCh37
NC_000013.9:g.22809713del	NCBI36
NG_012342.1:g.101130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16212del	ENSP00000508399.1:n.2185+16212del
ENST00000682944.1:c.6330del	ENSP00000507173.1:p.Leu2111TrpfsTer12
ENST00000683210.1:c.2185+16212del	ENSP00000506739.1:n.2185+16212del
ENST00000683270.1:c.6294del	ENSP00000507624.1:p.Leu2099TrpfsTer12
ENST00000683367.1:c.2177-8089del	ENSP00000507780.1:n.2177-8089del
ENST00000683489.1:c.2291+4012del	ENSP00000508403.1:n.2291+4012del
ENST00000683680.1:c.2318+4012del	ENSP00000507223.1:n.2318+4012del
ENST00000684163.1:c.2204-8089del	ENSP00000508262.1:n.2204-8089del
ENST00000684196.1:n.4543-8089del
ENST00000684325.1:c.2186-15899del	ENSP00000508121.1:n.2186-15899del
ENST00000684385.1:c.2221-8089del	ENSP00000507855.1:n.2221-8089del
ENST00000684497.1:c.2186-14929del	ENSP00000507057.1:n.2186-14929del
ENST00000382292.9:c.6303del MANE Select	ENSP00000371729.3:p.Leu2102TrpfsTer12
ENST00000423156.2:c.2186-8089del	ENSP00000390925.2:n.2186-8089del
ENST00000455470.6:c.2431+3872del	ENSP00000406565.2:n.2431+3872del
ENST00000382292.7:c.6303del	ENSP00000371729.3:p.Leu2102TrpfsTer12
ENST00000382298.7:c.6303del	ENSP00000371735.3:p.Leu2102TrpfsTer12
ENST00000402364.1:c.4053del	ENSP00000385844.1:p.Leu1352TrpfsTer12
ENST00000423156.1:c.1058-8089del	ENSP00000390925.1:n.1058-8089del
ENST00000455470.5:c.2129+3872del
NM_001278055.1:c.5862del	NP_001264984.1:p.Leu1955TrpfsTer12
NM_014363.5:c.6303del	NP_055178.3:p.Leu2102TrpfsTer12
XM_005266338.1:c.6330del	XP_005266395.1:p.Leu2111TrpfsTer12
XM_011535038.1:c.6354del	XP_011533340.1:p.Leu2119TrpfsTer12
XM_011535039.1:c.6321del	XP_011533341.1:p.Leu2108TrpfsTer12
XM_005266338.2:c.6330del	XP_005266395.1:p.Leu2111TrpfsTer12
XM_011535039.2:c.6321del	XP_011533341.1:p.Leu2108TrpfsTer12
XM_017020539.1:c.6294del	XP_016876028.1:p.Leu2099TrpfsTer12
XM_024449337.1:c.6330del	XP_024305105.1:p.Leu2111TrpfsTer12
NM_014363.6:c.6303del MANE Select	NP_055178.3:p.Leu2102TrpfsTer12
NM_001278055.2:c.5862del	NP_001264984.1:p.Leu1955TrpfsTer12