Canonical Allele Identifier: CA2573149108

Gene: SACS

Linked Data

• ClinVar Variation Id: 1456338
• ClinVar RCV Id: RCV001951096
• dbSNP Id: rs2137549635

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330534del , CM000675.2:g.23330534del	GRCh38
NC_000013.10:g.23904673del , CM000675.1:g.23904673del	GRCh37
NC_000013.9:g.22802673del	NCBI36
NG_012342.1:g.108169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18419del	ENSP00000508399.1:n.2186-18419del
ENST00000682944.1:c.13369del	ENSP00000507173.1:p.Arg4457AlafsTer4
ENST00000683210.1:c.2185+23251del	ENSP00000506739.1:n.2185+23251del
ENST00000683270.1:c.6446-1050del	ENSP00000507624.1:n.6446-1050del
ENST00000683367.1:c.2177-1050del	ENSP00000507780.1:n.2177-1050del
ENST00000683489.1:c.2292-582del	ENSP00000508403.1:n.2292-582del
ENST00000683680.1:c.2319-582del	ENSP00000507223.1:n.2319-582del
ENST00000684163.1:c.2204-1050del	ENSP00000508262.1:n.2204-1050del
ENST00000684196.1:n.4543-1050del
ENST00000684325.1:c.2186-8860del	ENSP00000508121.1:n.2186-8860del
ENST00000684385.1:c.2221-1050del	ENSP00000507855.1:n.2221-1050del
ENST00000684497.1:c.2186-7890del	ENSP00000507057.1:n.2186-7890del
ENST00000382292.9:c.13342del MANE Select	ENSP00000371729.3:p.Arg4448AlafsTer4
ENST00000423156.2:c.2186-1050del	ENSP00000390925.2:n.2186-1050del
ENST00000455470.6:c.2432-1050del	ENSP00000406565.2:n.2432-1050del
ENST00000382292.7:c.13342del	ENSP00000371729.3:p.Arg4448AlafsTer4
ENST00000382298.7:c.13342del	ENSP00000371735.3:p.Arg4448AlafsTer4
ENST00000402364.1:c.11092del	ENSP00000385844.1:p.Arg3698AlafsTer4
ENST00000423156.1:c.1058-1050del	ENSP00000390925.1:n.1058-1050del
ENST00000455470.5:c.2130-1050del
NM_001278055.1:c.12901del	NP_001264984.1:p.Arg4301AlafsTer4
NM_014363.5:c.13342del	NP_055178.3:p.Arg4448AlafsTer4
XM_005266338.1:c.13369del	XP_005266395.1:p.Arg4457AlafsTer4
XM_011535038.1:c.13393del	XP_011533340.1:p.Arg4465AlafsTer4
XM_011535039.1:c.13360del	XP_011533341.1:p.Arg4454AlafsTer4
XM_005266338.2:c.13369del	XP_005266395.1:p.Arg4457AlafsTer4
XM_011535039.2:c.13360del	XP_011533341.1:p.Arg4454AlafsTer4
XM_017020539.1:c.13333del	XP_016876028.1:p.Arg4445AlafsTer4
XM_024449337.1:c.13369del	XP_024305105.1:p.Arg4457AlafsTer4
NM_014363.6:c.13342del MANE Select	NP_055178.3:p.Arg4448AlafsTer4
NM_001278055.2:c.12901del	NP_001264984.1:p.Arg4301AlafsTer4