Canonical Allele Identifier: CA2695199212

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678524
• ClinVar RCV Id: RCV003466334

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333824_23333825del , CM000675.2:g.23333824_23333825del	GRCh38
NC_000013.10:g.23907963_23907964del , CM000675.1:g.23907963_23907964del	GRCh37
NC_000013.9:g.22805963_22805964del	NCBI36
NG_012342.1:g.104882_104883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19964_2185+19965del	ENSP00000508399.1:n.2185+19964_2185+19965del
ENST00000682944.1:c.10082_10083del	ENSP00000507173.1:p.Thr3361SerfsTer23
ENST00000683210.1:c.2185+19964_2185+19965del	ENSP00000506739.1:n.2185+19964_2185+19965del
ENST00000683270.1:c.6445+3601_6445+3602del	ENSP00000507624.1:n.6445+3601_6445+3602del
ENST00000683367.1:c.2177-4337_2177-4336del	ENSP00000507780.1:n.2177-4337_2177-4336del
ENST00000683489.1:c.2292-3869_2292-3868del	ENSP00000508403.1:n.2292-3869_2292-3868del
ENST00000683680.1:c.2319-3869_2319-3868del	ENSP00000507223.1:n.2319-3869_2319-3868del
ENST00000684163.1:c.2204-4337_2204-4336del	ENSP00000508262.1:n.2204-4337_2204-4336del
ENST00000684196.1:n.4543-4337_4543-4336del
ENST00000684325.1:c.2186-12147_2186-12146del	ENSP00000508121.1:n.2186-12147_2186-12146del
ENST00000684385.1:c.2221-4337_2221-4336del	ENSP00000507855.1:n.2221-4337_2221-4336del
ENST00000684497.1:c.2186-11177_2186-11176del	ENSP00000507057.1:n.2186-11177_2186-11176del
ENST00000382292.9:c.10055_10056del MANE Select	ENSP00000371729.3:p.Thr3352SerfsTer23
ENST00000423156.2:c.2186-4337_2186-4336del	ENSP00000390925.2:n.2186-4337_2186-4336del
ENST00000455470.6:c.2432-4337_2432-4336del	ENSP00000406565.2:n.2432-4337_2432-4336del
ENST00000382292.7:c.10055_10056del	ENSP00000371729.3:p.Thr3352SerfsTer23
ENST00000382298.7:c.10055_10056del	ENSP00000371735.3:p.Thr3352SerfsTer23
ENST00000402364.1:c.7805_7806del	ENSP00000385844.1:p.Thr2602SerfsTer23
ENST00000423156.1:c.1058-4337_1058-4336del	ENSP00000390925.1:n.1058-4337_1058-4336del
ENST00000455470.5:c.2130-4337_2130-4336del
NM_001278055.1:c.9614_9615del	NP_001264984.1:p.Thr3205SerfsTer23
NM_014363.5:c.10055_10056del	NP_055178.3:p.Thr3352SerfsTer23
XM_005266338.1:c.10082_10083del	XP_005266395.1:p.Thr3361SerfsTer23
XM_011535038.1:c.10106_10107del	XP_011533340.1:p.Thr3369SerfsTer23
XM_011535039.1:c.10073_10074del	XP_011533341.1:p.Thr3358SerfsTer23
XM_005266338.2:c.10082_10083del	XP_005266395.1:p.Thr3361SerfsTer23
XM_011535039.2:c.10073_10074del	XP_011533341.1:p.Thr3358SerfsTer23
XM_017020539.1:c.10046_10047del	XP_016876028.1:p.Thr3349SerfsTer23
XM_024449337.1:c.10082_10083del	XP_024305105.1:p.Thr3361SerfsTer23
NM_014363.6:c.10055_10056del MANE Select	NP_055178.3:p.Thr3352SerfsTer23
NM_001278055.2:c.9614_9615del	NP_001264984.1:p.Thr3205SerfsTer23