Canonical Allele Identifier: CA2580086893

Gene: SACS

Linked Data

• ClinVar Variation Id: 2058357
• ClinVar RCV Id: RCV002942290

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334358_23334368del , CM000675.2:g.23334358_23334368del	GRCh38
NC_000013.10:g.23908497_23908507del , CM000675.1:g.23908497_23908507del	GRCh37
NC_000013.9:g.22806497_22806507del	NCBI36
NG_012342.1:g.104335_104345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19417_2185+19427del	ENSP00000508399.1:n.2185+19417_2185+19427del
ENST00000682944.1:c.9535_9545del	ENSP00000507173.1:p.Arg3179SerfsTer6
ENST00000683210.1:c.2185+19417_2185+19427del	ENSP00000506739.1:n.2185+19417_2185+19427del
ENST00000683270.1:c.6445+3054_6445+3064del	ENSP00000507624.1:n.6445+3054_6445+3064del
ENST00000683367.1:c.2177-4884_2177-4874del	ENSP00000507780.1:n.2177-4884_2177-4874del
ENST00000683489.1:c.2292-4416_2292-4406del	ENSP00000508403.1:n.2292-4416_2292-4406del
ENST00000683680.1:c.2319-4416_2319-4406del	ENSP00000507223.1:n.2319-4416_2319-4406del
ENST00000684163.1:c.2204-4884_2204-4874del	ENSP00000508262.1:n.2204-4884_2204-4874del
ENST00000684196.1:n.4543-4884_4543-4874del
ENST00000684325.1:c.2186-12694_2186-12684del	ENSP00000508121.1:n.2186-12694_2186-12684del
ENST00000684385.1:c.2221-4884_2221-4874del	ENSP00000507855.1:n.2221-4884_2221-4874del
ENST00000684497.1:c.2186-11724_2186-11714del	ENSP00000507057.1:n.2186-11724_2186-11714del
ENST00000382292.9:c.9508_9518del MANE Select	ENSP00000371729.3:p.Arg3170SerfsTer6
ENST00000423156.2:c.2186-4884_2186-4874del	ENSP00000390925.2:n.2186-4884_2186-4874del
ENST00000455470.6:c.2432-4884_2432-4874del	ENSP00000406565.2:n.2432-4884_2432-4874del
ENST00000382292.7:c.9508_9518del	ENSP00000371729.3:p.Arg3170SerfsTer6
ENST00000382298.7:c.9508_9518del	ENSP00000371735.3:p.Arg3170SerfsTer6
ENST00000402364.1:c.7258_7268del	ENSP00000385844.1:p.Arg2420SerfsTer6
ENST00000423156.1:c.1058-4884_1058-4874del	ENSP00000390925.1:n.1058-4884_1058-4874del
ENST00000455470.5:c.2130-4884_2130-4874del
NM_001278055.1:c.9067_9077del	NP_001264984.1:p.Arg3023SerfsTer6
NM_014363.5:c.9508_9518del	NP_055178.3:p.Arg3170SerfsTer6
XM_005266338.1:c.9535_9545del	XP_005266395.1:p.Arg3179SerfsTer6
XM_011535038.1:c.9559_9569del	XP_011533340.1:p.Arg3187SerfsTer6
XM_011535039.1:c.9526_9536del	XP_011533341.1:p.Arg3176SerfsTer6
XM_005266338.2:c.9535_9545del	XP_005266395.1:p.Arg3179SerfsTer6
XM_011535039.2:c.9526_9536del	XP_011533341.1:p.Arg3176SerfsTer6
XM_017020539.1:c.9499_9509del	XP_016876028.1:p.Arg3167SerfsTer6
XM_024449337.1:c.9535_9545del	XP_024305105.1:p.Arg3179SerfsTer6
NM_014363.6:c.9508_9518del MANE Select	NP_055178.3:p.Arg3170SerfsTer6
NM_001278055.2:c.9067_9077del	NP_001264984.1:p.Arg3023SerfsTer6