Canonical Allele Identifier: CA2695199214

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678579
• ClinVar RCV Id: RCV003472575

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334114del , CM000675.2:g.23334114del	GRCh38
NC_000013.10:g.23908253del , CM000675.1:g.23908253del	GRCh37
NC_000013.9:g.22806253del	NCBI36
NG_012342.1:g.104589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19671del	ENSP00000508399.1:n.2185+19671del
ENST00000682944.1:c.9789del	ENSP00000507173.1:p.Val3264Ter
ENST00000683210.1:c.2185+19671del	ENSP00000506739.1:n.2185+19671del
ENST00000683270.1:c.6445+3308del	ENSP00000507624.1:n.6445+3308del
ENST00000683367.1:c.2177-4630del	ENSP00000507780.1:n.2177-4630del
ENST00000683489.1:c.2292-4162del	ENSP00000508403.1:n.2292-4162del
ENST00000683680.1:c.2319-4162del	ENSP00000507223.1:n.2319-4162del
ENST00000684163.1:c.2204-4630del	ENSP00000508262.1:n.2204-4630del
ENST00000684196.1:n.4543-4630del
ENST00000684325.1:c.2186-12440del	ENSP00000508121.1:n.2186-12440del
ENST00000684385.1:c.2221-4630del	ENSP00000507855.1:n.2221-4630del
ENST00000684497.1:c.2186-11470del	ENSP00000507057.1:n.2186-11470del
ENST00000382292.9:c.9762del MANE Select	ENSP00000371729.3:p.Val3255Ter
ENST00000423156.2:c.2186-4630del	ENSP00000390925.2:n.2186-4630del
ENST00000455470.6:c.2432-4630del	ENSP00000406565.2:n.2432-4630del
ENST00000382292.7:c.9762del	ENSP00000371729.3:p.Val3255Ter
ENST00000382298.7:c.9762del	ENSP00000371735.3:p.Val3255Ter
ENST00000402364.1:c.7512del	ENSP00000385844.1:p.Val2505Ter
ENST00000423156.1:c.1058-4630del	ENSP00000390925.1:n.1058-4630del
ENST00000455470.5:c.2130-4630del
NM_001278055.1:c.9321del	NP_001264984.1:p.Val3108Ter
NM_014363.5:c.9762del	NP_055178.3:p.Val3255Ter
XM_005266338.1:c.9789del	XP_005266395.1:p.Val3264Ter
XM_011535038.1:c.9813del	XP_011533340.1:p.Val3272Ter
XM_011535039.1:c.9780del	XP_011533341.1:p.Val3261Ter
XM_005266338.2:c.9789del	XP_005266395.1:p.Val3264Ter
XM_011535039.2:c.9780del	XP_011533341.1:p.Val3261Ter
XM_017020539.1:c.9753del	XP_016876028.1:p.Val3252Ter
XM_024449337.1:c.9789del	XP_024305105.1:p.Val3264Ter
NM_014363.6:c.9762del MANE Select	NP_055178.3:p.Val3255Ter
NM_001278055.2:c.9321del	NP_001264984.1:p.Val3108Ter