Canonical Allele Identifier: CA1139663017

Gene: SACS

Linked Data

• ClinVar Variation Id: 929954
• ClinVar RCV Id: RCV001195303
• dbSNP Id: rs1883571351

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332776dup , CM000675.2:g.23332776dup	GRCh38
NC_000013.10:g.23906915dup , CM000675.1:g.23906915dup	GRCh37
NC_000013.9:g.22804915dup	NCBI36
NG_012342.1:g.105927dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20661dup	ENSP00000508399.1:n.2186-20661dup
ENST00000682944.1:c.11127dup	ENSP00000507173.1:p.Trp3710MetfsTer17
ENST00000683210.1:c.2185+21009dup	ENSP00000506739.1:n.2185+21009dup
ENST00000683270.1:c.6446-3292dup	ENSP00000507624.1:n.6446-3292dup
ENST00000683367.1:c.2177-3292dup	ENSP00000507780.1:n.2177-3292dup
ENST00000683489.1:c.2292-2824dup	ENSP00000508403.1:n.2292-2824dup
ENST00000683680.1:c.2319-2824dup	ENSP00000507223.1:n.2319-2824dup
ENST00000684163.1:c.2204-3292dup	ENSP00000508262.1:n.2204-3292dup
ENST00000684196.1:n.4543-3292dup
ENST00000684325.1:c.2186-11102dup	ENSP00000508121.1:n.2186-11102dup
ENST00000684385.1:c.2221-3292dup	ENSP00000507855.1:n.2221-3292dup
ENST00000684497.1:c.2186-10132dup	ENSP00000507057.1:n.2186-10132dup
ENST00000382292.9:c.11100dup MANE Select	ENSP00000371729.3:p.Trp3701MetfsTer17
ENST00000423156.2:c.2186-3292dup	ENSP00000390925.2:n.2186-3292dup
ENST00000455470.6:c.2432-3292dup	ENSP00000406565.2:n.2432-3292dup
ENST00000382292.7:c.11100dup	ENSP00000371729.3:p.Trp3701MetfsTer17
ENST00000382298.7:c.11100dup	ENSP00000371735.3:p.Trp3701MetfsTer17
ENST00000402364.1:c.8850dup	ENSP00000385844.1:p.Trp2951MetfsTer17
ENST00000423156.1:c.1058-3292dup	ENSP00000390925.1:n.1058-3292dup
ENST00000455470.5:c.2130-3292dup
NM_001278055.1:c.10659dup	NP_001264984.1:p.Trp3554MetfsTer17
NM_014363.5:c.11100dup	NP_055178.3:p.Trp3701MetfsTer17
XM_005266338.1:c.11127dup	XP_005266395.1:p.Trp3710MetfsTer17
XM_011535038.1:c.11151dup	XP_011533340.1:p.Trp3718MetfsTer17
XM_011535039.1:c.11118dup	XP_011533341.1:p.Trp3707MetfsTer17
XM_005266338.2:c.11127dup	XP_005266395.1:p.Trp3710MetfsTer17
XM_011535039.2:c.11118dup	XP_011533341.1:p.Trp3707MetfsTer17
XM_017020539.1:c.11091dup	XP_016876028.1:p.Trp3698MetfsTer17
XM_024449337.1:c.11127dup	XP_024305105.1:p.Trp3710MetfsTer17
NM_014363.6:c.11100dup MANE Select	NP_055178.3:p.Trp3701MetfsTer17
NM_001278055.2:c.10659dup	NP_001264984.1:p.Trp3554MetfsTer17