Canonical Allele Identifier: CA2622328915

Gene: SACS

Linked Data

• ClinVar Variation Id: 2883680
• ClinVar RCV Id: RCV003750444
• gnomAD v4: 13-23332830-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332832del , CM000675.2:g.23332832del	GRCh38
NC_000013.10:g.23906971del , CM000675.1:g.23906971del	GRCh37
NC_000013.9:g.22804971del	NCBI36
NG_012342.1:g.105872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20716del	ENSP00000508399.1:n.2186-20716del
ENST00000682944.1:c.11072del	ENSP00000507173.1:p.Phe3691SerfsTer6
ENST00000683210.1:c.2185+20954del	ENSP00000506739.1:n.2185+20954del
ENST00000683270.1:c.6446-3347del	ENSP00000507624.1:n.6446-3347del
ENST00000683367.1:c.2177-3347del	ENSP00000507780.1:n.2177-3347del
ENST00000683489.1:c.2292-2879del	ENSP00000508403.1:n.2292-2879del
ENST00000683680.1:c.2319-2879del	ENSP00000507223.1:n.2319-2879del
ENST00000684163.1:c.2204-3347del	ENSP00000508262.1:n.2204-3347del
ENST00000684196.1:n.4543-3347del
ENST00000684325.1:c.2186-11157del	ENSP00000508121.1:n.2186-11157del
ENST00000684385.1:c.2221-3347del	ENSP00000507855.1:n.2221-3347del
ENST00000684497.1:c.2186-10187del	ENSP00000507057.1:n.2186-10187del
ENST00000382292.9:c.11045del MANE Select	ENSP00000371729.3:p.Phe3682SerfsTer6
ENST00000423156.2:c.2186-3347del	ENSP00000390925.2:n.2186-3347del
ENST00000455470.6:c.2432-3347del	ENSP00000406565.2:n.2432-3347del
ENST00000382292.7:c.11045del	ENSP00000371729.3:p.Phe3682SerfsTer6
ENST00000382298.7:c.11045del	ENSP00000371735.3:p.Phe3682SerfsTer6
ENST00000402364.1:c.8795del	ENSP00000385844.1:p.Phe2932SerfsTer6
ENST00000423156.1:c.1058-3347del	ENSP00000390925.1:n.1058-3347del
ENST00000455470.5:c.2130-3347del
NM_001278055.1:c.10604del	NP_001264984.1:p.Phe3535SerfsTer6
NM_014363.5:c.11045del	NP_055178.3:p.Phe3682SerfsTer6
XM_005266338.1:c.11072del	XP_005266395.1:p.Phe3691SerfsTer6
XM_011535038.1:c.11096del	XP_011533340.1:p.Phe3699SerfsTer6
XM_011535039.1:c.11063del	XP_011533341.1:p.Phe3688SerfsTer6
XM_005266338.2:c.11072del	XP_005266395.1:p.Phe3691SerfsTer6
XM_011535039.2:c.11063del	XP_011533341.1:p.Phe3688SerfsTer6
XM_017020539.1:c.11036del	XP_016876028.1:p.Phe3679SerfsTer6
XM_024449337.1:c.11072del	XP_024305105.1:p.Phe3691SerfsTer6
NM_014363.6:c.11045del MANE Select	NP_055178.3:p.Phe3682SerfsTer6
NM_001278055.2:c.10604del	NP_001264984.1:p.Phe3535SerfsTer6