Canonical Allele Identifier: CA2695199197

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678518
• ClinVar RCV Id: RCV003466328

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330767dup , CM000675.2:g.23330767dup	GRCh38
NC_000013.10:g.23904906dup , CM000675.1:g.23904906dup	GRCh37
NC_000013.9:g.22802906dup	NCBI36
NG_012342.1:g.107939dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18649dup	ENSP00000508399.1:n.2186-18649dup
ENST00000682944.1:c.13139dup	ENSP00000507173.1:p.Asn4380LysfsTer?
ENST00000683210.1:c.2185+23021dup	ENSP00000506739.1:n.2185+23021dup
ENST00000683270.1:c.6446-1280dup	ENSP00000507624.1:n.6446-1280dup
ENST00000683367.1:c.2177-1280dup	ENSP00000507780.1:n.2177-1280dup
ENST00000683489.1:c.2292-812dup	ENSP00000508403.1:n.2292-812dup
ENST00000683680.1:c.2319-812dup	ENSP00000507223.1:n.2319-812dup
ENST00000684163.1:c.2204-1280dup	ENSP00000508262.1:n.2204-1280dup
ENST00000684196.1:n.4543-1280dup
ENST00000684325.1:c.2186-9090dup	ENSP00000508121.1:n.2186-9090dup
ENST00000684385.1:c.2221-1280dup	ENSP00000507855.1:n.2221-1280dup
ENST00000684497.1:c.2186-8120dup	ENSP00000507057.1:n.2186-8120dup
ENST00000382292.9:c.13112dup MANE Select	ENSP00000371729.3:p.Asn4371LysfsTer?
ENST00000423156.2:c.2186-1280dup	ENSP00000390925.2:n.2186-1280dup
ENST00000455470.6:c.2432-1280dup	ENSP00000406565.2:n.2432-1280dup
ENST00000382292.7:c.13112dup	ENSP00000371729.3:p.Asn4371LysfsTer?
ENST00000382298.7:c.13112dup	ENSP00000371735.3:p.Asn4371LysfsTer?
ENST00000402364.1:c.10862dup	ENSP00000385844.1:p.Asn3621LysfsTer?
ENST00000423156.1:c.1058-1280dup	ENSP00000390925.1:n.1058-1280dup
ENST00000455470.5:c.2130-1280dup
NM_001278055.1:c.12671dup	NP_001264984.1:p.Asn4224LysfsTer?
NM_014363.5:c.13112dup	NP_055178.3:p.Asn4371LysfsTer?
XM_005266338.1:c.13139dup	XP_005266395.1:p.Asn4380LysfsTer?
XM_011535038.1:c.13163dup	XP_011533340.1:p.Asn4388LysfsTer?
XM_011535039.1:c.13130dup	XP_011533341.1:p.Asn4377LysfsTer?
XM_005266338.2:c.13139dup	XP_005266395.1:p.Asn4380LysfsTer?
XM_011535039.2:c.13130dup	XP_011533341.1:p.Asn4377LysfsTer?
XM_017020539.1:c.13103dup	XP_016876028.1:p.Asn4368LysfsTer?
XM_024449337.1:c.13139dup	XP_024305105.1:p.Asn4380LysfsTer?
NM_014363.6:c.13112dup MANE Select	NP_055178.3:p.Asn4371LysfsTer?
NM_001278055.2:c.12671dup	NP_001264984.1:p.Asn4224LysfsTer?