Canonical Allele Identifier: CA246658671

Gene: SACS

Linked Data

• dbSNP Id: rs879231171
• MyVariant Identifiers: chr13:g.23912145_23912146insA (hg19) ; chr13:g.23338006_23338007insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338011dup , CM000675.2:g.23338011dup	GRCh38
NC_000013.10:g.23912150dup , CM000675.1:g.23912150dup	GRCh37
NC_000013.9:g.22810150dup	NCBI36
NG_012342.1:g.100696dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+15778dup	ENSP00000508399.1:n.2185+15778dup
ENST00000682944.1:c.5896dup	ENSP00000507173.1:p.Ser1966PhefsTer9
ENST00000683210.1:c.2185+15778dup	ENSP00000506739.1:n.2185+15778dup
ENST00000683270.1:c.5860dup	ENSP00000507624.1:p.Ser1954PhefsTer9
ENST00000683367.1:c.2177-8523dup	ENSP00000507780.1:n.2177-8523dup
ENST00000683489.1:c.2291+3578dup	ENSP00000508403.1:n.2291+3578dup
ENST00000683680.1:c.2318+3578dup	ENSP00000507223.1:n.2318+3578dup
ENST00000684163.1:c.2204-8523dup	ENSP00000508262.1:n.2204-8523dup
ENST00000684196.1:n.4543-8523dup
ENST00000684325.1:c.2185+15778dup	ENSP00000508121.1:n.2185+15778dup
ENST00000684385.1:c.2221-8523dup	ENSP00000507855.1:n.2221-8523dup
ENST00000684497.1:c.2186-15363dup	ENSP00000507057.1:n.2186-15363dup
ENST00000382292.9:c.5869dup MANE Select	ENSP00000371729.3:p.Ser1957PhefsTer9
ENST00000423156.2:c.2186-8523dup	ENSP00000390925.2:n.2186-8523dup
ENST00000455470.6:c.2431+3438dup	ENSP00000406565.2:n.2431+3438dup
ENST00000382292.7:c.5869dup	ENSP00000371729.3:p.Ser1957PhefsTer9
ENST00000382298.7:c.5869dup	ENSP00000371735.3:p.Ser1957PhefsTer9
ENST00000402364.1:c.3619dup	ENSP00000385844.1:p.Ser1207PhefsTer9
ENST00000423156.1:c.1058-8523dup	ENSP00000390925.1:n.1058-8523dup
ENST00000455470.5:c.2129+3438dup
NM_001278055.1:c.5428dup	NP_001264984.1:p.Ser1810PhefsTer9
NM_014363.5:c.5869dup	NP_055178.3:p.Ser1957PhefsTer9
XM_005266338.1:c.5896dup	XP_005266395.1:p.Ser1966PhefsTer9
XM_011535038.1:c.5920dup	XP_011533340.1:p.Ser1974PhefsTer9
XM_011535039.1:c.5887dup	XP_011533341.1:p.Ser1963PhefsTer9
XM_005266338.2:c.5896dup	XP_005266395.1:p.Ser1966PhefsTer9
XM_011535039.2:c.5887dup	XP_011533341.1:p.Ser1963PhefsTer9
XM_017020539.1:c.5860dup	XP_016876028.1:p.Ser1954PhefsTer9
XM_024449337.1:c.5896dup	XP_024305105.1:p.Ser1966PhefsTer9
NM_014363.6:c.5869dup MANE Select	NP_055178.3:p.Ser1957PhefsTer9
NM_001278055.2:c.5428dup	NP_001264984.1:p.Ser1810PhefsTer9