Canonical Allele Identifier: CA2697551671

Gene: SACS

Linked Data

• ClinVar Variation Id: 2684331
• ClinVar RCV Id: RCV003482827

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336760del , CM000675.2:g.23336760del	GRCh38
NC_000013.10:g.23910899del , CM000675.1:g.23910899del	GRCh37
NC_000013.9:g.22808899del	NCBI36
NG_012342.1:g.101943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17025del	ENSP00000508399.1:n.2185+17025del
ENST00000682944.1:c.7143del	ENSP00000507173.1:p.Gln2382SerfsTer19
ENST00000683210.1:c.2185+17025del	ENSP00000506739.1:n.2185+17025del
ENST00000683270.1:c.6445+662del	ENSP00000507624.1:n.6445+662del
ENST00000683367.1:c.2177-7276del	ENSP00000507780.1:n.2177-7276del
ENST00000683489.1:c.2291+4825del	ENSP00000508403.1:n.2291+4825del
ENST00000683680.1:c.2318+4825del	ENSP00000507223.1:n.2318+4825del
ENST00000684163.1:c.2204-7276del	ENSP00000508262.1:n.2204-7276del
ENST00000684196.1:n.4543-7276del
ENST00000684325.1:c.2186-15086del	ENSP00000508121.1:n.2186-15086del
ENST00000684385.1:c.2221-7276del	ENSP00000507855.1:n.2221-7276del
ENST00000684497.1:c.2186-14116del	ENSP00000507057.1:n.2186-14116del
ENST00000382292.9:c.7116del MANE Select	ENSP00000371729.3:p.Gln2373SerfsTer19
ENST00000423156.2:c.2186-7276del	ENSP00000390925.2:n.2186-7276del
ENST00000455470.6:c.2431+4685del	ENSP00000406565.2:n.2431+4685del
ENST00000382292.7:c.7116del	ENSP00000371729.3:p.Gln2373SerfsTer19
ENST00000382298.7:c.7116del	ENSP00000371735.3:p.Gln2373SerfsTer19
ENST00000402364.1:c.4866del	ENSP00000385844.1:p.Gln1623SerfsTer19
ENST00000423156.1:c.1058-7276del	ENSP00000390925.1:n.1058-7276del
ENST00000455470.5:c.2129+4685del
NM_001278055.1:c.6675del	NP_001264984.1:p.Gln2226SerfsTer19
NM_014363.5:c.7116del	NP_055178.3:p.Gln2373SerfsTer19
XM_005266338.1:c.7143del	XP_005266395.1:p.Gln2382SerfsTer19
XM_011535038.1:c.7167del	XP_011533340.1:p.Gln2390SerfsTer19
XM_011535039.1:c.7134del	XP_011533341.1:p.Gln2379SerfsTer19
XM_005266338.2:c.7143del	XP_005266395.1:p.Gln2382SerfsTer19
XM_011535039.2:c.7134del	XP_011533341.1:p.Gln2379SerfsTer19
XM_017020539.1:c.7107del	XP_016876028.1:p.Gln2370SerfsTer19
XM_024449337.1:c.7143del	XP_024305105.1:p.Gln2382SerfsTer19
NM_014363.6:c.7116del MANE Select	NP_055178.3:p.Gln2373SerfsTer19
NM_001278055.2:c.6675del	NP_001264984.1:p.Gln2226SerfsTer19