Canonical Allele Identifier: CA2580614615

Gene: SACS

Linked Data

• ClinVar Variation Id: 2504052
• ClinVar RCV Id: RCV003231043

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330277del , CM000675.2:g.23330277del	GRCh38
NC_000013.10:g.23904416del , CM000675.1:g.23904416del	GRCh37
NC_000013.9:g.22802416del	NCBI36
NG_012342.1:g.108428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18160del	ENSP00000508399.1:n.2186-18160del
ENST00000682944.1:c.13628del	ENSP00000507173.1:p.Leu4543Ter
ENST00000683210.1:c.2185+23510del	ENSP00000506739.1:n.2185+23510del
ENST00000683270.1:c.6446-791del	ENSP00000507624.1:n.6446-791del
ENST00000683367.1:c.2177-791del	ENSP00000507780.1:n.2177-791del
ENST00000683489.1:c.2292-323del	ENSP00000508403.1:n.2292-323del
ENST00000683680.1:c.2319-323del	ENSP00000507223.1:n.2319-323del
ENST00000684163.1:c.2204-791del	ENSP00000508262.1:n.2204-791del
ENST00000684196.1:n.4543-791del
ENST00000684325.1:c.2186-8601del	ENSP00000508121.1:n.2186-8601del
ENST00000684385.1:c.2221-791del	ENSP00000507855.1:n.2221-791del
ENST00000684497.1:c.2186-7631del	ENSP00000507057.1:n.2186-7631del
ENST00000382292.9:c.13601del MANE Select	ENSP00000371729.3:p.Leu4534Ter
ENST00000423156.2:c.2186-791del	ENSP00000390925.2:n.2186-791del
ENST00000455470.6:c.2432-791del	ENSP00000406565.2:n.2432-791del
ENST00000382292.7:c.13601del	ENSP00000371729.3:p.Leu4534Ter
ENST00000382298.7:c.13601del	ENSP00000371735.3:p.Leu4534Ter
ENST00000402364.1:c.11351del	ENSP00000385844.1:p.Leu3784Ter
ENST00000423156.1:c.1058-791del	ENSP00000390925.1:n.1058-791del
ENST00000455470.5:c.2130-791del
NM_001278055.1:c.13160del	NP_001264984.1:p.Leu4387Ter
NM_014363.5:c.13601del	NP_055178.3:p.Leu4534Ter
XM_005266338.1:c.13628del	XP_005266395.1:p.Leu4543Ter
XM_011535038.1:c.13652del	XP_011533340.1:p.Leu4551Ter
XM_011535039.1:c.13619del	XP_011533341.1:p.Leu4540Ter
XM_005266338.2:c.13628del	XP_005266395.1:p.Leu4543Ter
XM_011535039.2:c.13619del	XP_011533341.1:p.Leu4540Ter
XM_017020539.1:c.13592del	XP_016876028.1:p.Leu4531Ter
XM_024449337.1:c.13628del	XP_024305105.1:p.Leu4543Ter
NM_014363.6:c.13601del MANE Select	NP_055178.3:p.Leu4534Ter
NM_001278055.2:c.13160del	NP_001264984.1:p.Leu4387Ter