Canonical Allele Identifier: CA2622329053

Gene: SACS

Linked Data

• gnomAD v4: 13-23338407-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338408dup , CM000675.2:g.23338408dup	GRCh38
NC_000013.10:g.23912547dup , CM000675.1:g.23912547dup	GRCh37
NC_000013.9:g.22810547dup	NCBI36
NG_012342.1:g.100295dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15377dup	ENSP00000508399.1:n.2185+15377dup
ENST00000682944.1:c.5495dup	ENSP00000507173.1:p.Cys1832TrpfsTer14
ENST00000683210.1:c.2185+15377dup	ENSP00000506739.1:n.2185+15377dup
ENST00000683270.1:c.5459dup	ENSP00000507624.1:p.Cys1820TrpfsTer14
ENST00000683367.1:c.2177-8924dup	ENSP00000507780.1:n.2177-8924dup
ENST00000683489.1:c.2291+3177dup	ENSP00000508403.1:n.2291+3177dup
ENST00000683680.1:c.2318+3177dup	ENSP00000507223.1:n.2318+3177dup
ENST00000684163.1:c.2203+8403dup	ENSP00000508262.1:n.2203+8403dup
ENST00000684196.1:n.4543-8924dup
ENST00000684325.1:c.2185+15377dup	ENSP00000508121.1:n.2185+15377dup
ENST00000684385.1:c.2220+8403dup	ENSP00000507855.1:n.2220+8403dup
ENST00000684497.1:c.2185+15377dup	ENSP00000507057.1:n.2185+15377dup
ENST00000382292.9:c.5468dup MANE Select	ENSP00000371729.3:p.Cys1823TrpfsTer14
ENST00000423156.2:c.2186-8924dup	ENSP00000390925.2:n.2186-8924dup
ENST00000455470.6:c.2431+3037dup	ENSP00000406565.2:n.2431+3037dup
ENST00000382292.7:c.5468dup	ENSP00000371729.3:p.Cys1823TrpfsTer14
ENST00000382298.7:c.5468dup	ENSP00000371735.3:p.Cys1823TrpfsTer14
ENST00000402364.1:c.3218dup	ENSP00000385844.1:p.Cys1073TrpfsTer14
ENST00000423156.1:c.1058-8924dup	ENSP00000390925.1:n.1058-8924dup
ENST00000455470.5:c.2129+3037dup
NM_001278055.1:c.5027dup	NP_001264984.1:p.Cys1676TrpfsTer14
NM_014363.5:c.5468dup	NP_055178.3:p.Cys1823TrpfsTer14
XM_005266338.1:c.5495dup	XP_005266395.1:p.Cys1832TrpfsTer14
XM_011535038.1:c.5519dup	XP_011533340.1:p.Cys1840TrpfsTer14
XM_011535039.1:c.5486dup	XP_011533341.1:p.Cys1829TrpfsTer14
XM_005266338.2:c.5495dup	XP_005266395.1:p.Cys1832TrpfsTer14
XM_011535039.2:c.5486dup	XP_011533341.1:p.Cys1829TrpfsTer14
XM_017020539.1:c.5459dup	XP_016876028.1:p.Cys1820TrpfsTer14
XM_024449337.1:c.5495dup	XP_024305105.1:p.Cys1832TrpfsTer14
NM_014363.6:c.5468dup MANE Select	NP_055178.3:p.Cys1823TrpfsTer14
NM_001278055.2:c.5027dup	NP_001264984.1:p.Cys1676TrpfsTer14