Canonical Allele Identifier: CA2538986373

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334140dup , CM000675.2:g.23334140dup	GRCh38
NC_000013.10:g.23908279dup , CM000675.1:g.23908279dup	GRCh37
NC_000013.9:g.22806279dup	NCBI36
NG_012342.1:g.104564dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19646dup	ENSP00000508399.1:n.2185+19646dup
ENST00000682944.1:c.9764dup	ENSP00000507173.1:p.Asn3255LysfsTer7
ENST00000683210.1:c.2185+19646dup	ENSP00000506739.1:n.2185+19646dup
ENST00000683270.1:c.6445+3283dup	ENSP00000507624.1:n.6445+3283dup
ENST00000683367.1:c.2177-4655dup	ENSP00000507780.1:n.2177-4655dup
ENST00000683489.1:c.2292-4187dup	ENSP00000508403.1:n.2292-4187dup
ENST00000683680.1:c.2319-4187dup	ENSP00000507223.1:n.2319-4187dup
ENST00000684163.1:c.2204-4655dup	ENSP00000508262.1:n.2204-4655dup
ENST00000684196.1:n.4543-4655dup
ENST00000684325.1:c.2186-12465dup	ENSP00000508121.1:n.2186-12465dup
ENST00000684385.1:c.2221-4655dup	ENSP00000507855.1:n.2221-4655dup
ENST00000684497.1:c.2186-11495dup	ENSP00000507057.1:n.2186-11495dup
ENST00000382292.9:c.9737dup MANE Select	ENSP00000371729.3:p.Asn3246LysfsTer7
ENST00000423156.2:c.2186-4655dup	ENSP00000390925.2:n.2186-4655dup
ENST00000455470.6:c.2432-4655dup	ENSP00000406565.2:n.2432-4655dup
ENST00000382292.7:c.9737dup	ENSP00000371729.3:p.Asn3246LysfsTer7
ENST00000382298.7:c.9737dup	ENSP00000371735.3:p.Asn3246LysfsTer7
ENST00000402364.1:c.7487dup	ENSP00000385844.1:p.Asn2496LysfsTer7
ENST00000423156.1:c.1058-4655dup	ENSP00000390925.1:n.1058-4655dup
ENST00000455470.5:c.2130-4655dup
NM_001278055.1:c.9296dup	NP_001264984.1:p.Asn3099LysfsTer7
NM_014363.5:c.9737dup	NP_055178.3:p.Asn3246LysfsTer7
XM_005266338.1:c.9764dup	XP_005266395.1:p.Asn3255LysfsTer7
XM_011535038.1:c.9788dup	XP_011533340.1:p.Asn3263LysfsTer7
XM_011535039.1:c.9755dup	XP_011533341.1:p.Asn3252LysfsTer7
XM_005266338.2:c.9764dup	XP_005266395.1:p.Asn3255LysfsTer7
XM_011535039.2:c.9755dup	XP_011533341.1:p.Asn3252LysfsTer7
XM_017020539.1:c.9728dup	XP_016876028.1:p.Asn3243LysfsTer7
XM_024449337.1:c.9764dup	XP_024305105.1:p.Asn3255LysfsTer7
NM_014363.6:c.9737dup MANE Select	NP_055178.3:p.Asn3246LysfsTer7
NM_001278055.2:c.9296dup	NP_001264984.1:p.Asn3099LysfsTer7