Canonical Allele Identifier: CA2622328856

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678563
• ClinVar RCV Id: RCV003466373
• gnomAD v4: 13-23330442-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330443dup , CM000675.2:g.23330443dup	GRCh38
NC_000013.10:g.23904582dup , CM000675.1:g.23904582dup	GRCh37
NC_000013.9:g.22802582dup	NCBI36
NG_012342.1:g.108260dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18328dup	ENSP00000508399.1:n.2186-18328dup
ENST00000682944.1:c.13460dup	ENSP00000507173.1:p.Tyr4487Ter
ENST00000683210.1:c.2185+23342dup	ENSP00000506739.1:n.2185+23342dup
ENST00000683270.1:c.6446-959dup	ENSP00000507624.1:n.6446-959dup
ENST00000683367.1:c.2177-959dup	ENSP00000507780.1:n.2177-959dup
ENST00000683489.1:c.2292-491dup	ENSP00000508403.1:n.2292-491dup
ENST00000683680.1:c.2319-491dup	ENSP00000507223.1:n.2319-491dup
ENST00000684163.1:c.2204-959dup	ENSP00000508262.1:n.2204-959dup
ENST00000684196.1:n.4543-959dup
ENST00000684325.1:c.2186-8769dup	ENSP00000508121.1:n.2186-8769dup
ENST00000684385.1:c.2221-959dup	ENSP00000507855.1:n.2221-959dup
ENST00000684497.1:c.2186-7799dup	ENSP00000507057.1:n.2186-7799dup
ENST00000382292.9:c.13433dup MANE Select	ENSP00000371729.3:p.Tyr4478Ter
ENST00000423156.2:c.2186-959dup	ENSP00000390925.2:n.2186-959dup
ENST00000455470.6:c.2432-959dup	ENSP00000406565.2:n.2432-959dup
ENST00000382292.7:c.13433dup	ENSP00000371729.3:p.Tyr4478Ter
ENST00000382298.7:c.13433dup	ENSP00000371735.3:p.Tyr4478Ter
ENST00000402364.1:c.11183dup	ENSP00000385844.1:p.Tyr3728Ter
ENST00000423156.1:c.1058-959dup	ENSP00000390925.1:n.1058-959dup
ENST00000455470.5:c.2130-959dup
NM_001278055.1:c.12992dup	NP_001264984.1:p.Tyr4331Ter
NM_014363.5:c.13433dup	NP_055178.3:p.Tyr4478Ter
XM_005266338.1:c.13460dup	XP_005266395.1:p.Tyr4487Ter
XM_011535038.1:c.13484dup	XP_011533340.1:p.Tyr4495Ter
XM_011535039.1:c.13451dup	XP_011533341.1:p.Tyr4484Ter
XM_005266338.2:c.13460dup	XP_005266395.1:p.Tyr4487Ter
XM_011535039.2:c.13451dup	XP_011533341.1:p.Tyr4484Ter
XM_017020539.1:c.13424dup	XP_016876028.1:p.Tyr4475Ter
XM_024449337.1:c.13460dup	XP_024305105.1:p.Tyr4487Ter
NM_014363.6:c.13433dup MANE Select	NP_055178.3:p.Tyr4478Ter
NM_001278055.2:c.12992dup	NP_001264984.1:p.Tyr4331Ter