Canonical Allele Identifier: CA2078632472

Gene: SACS

Linked Data

• dbSNP Id: rs1883587666

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332997dup , CM000675.2:g.23332997dup	GRCh38
NC_000013.10:g.23907136dup , CM000675.1:g.23907136dup	GRCh37
NC_000013.9:g.22805136dup	NCBI36
NG_012342.1:g.105706dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20788dup	ENSP00000508399.1:n.2185+20788dup
ENST00000682944.1:c.10906dup	ENSP00000507173.1:p.Ile3636AsnfsTer?
ENST00000683210.1:c.2185+20788dup	ENSP00000506739.1:n.2185+20788dup
ENST00000683270.1:c.6446-3513dup	ENSP00000507624.1:n.6446-3513dup
ENST00000683367.1:c.2177-3513dup	ENSP00000507780.1:n.2177-3513dup
ENST00000683489.1:c.2292-3045dup	ENSP00000508403.1:n.2292-3045dup
ENST00000683680.1:c.2319-3045dup	ENSP00000507223.1:n.2319-3045dup
ENST00000684163.1:c.2204-3513dup	ENSP00000508262.1:n.2204-3513dup
ENST00000684196.1:n.4543-3513dup
ENST00000684325.1:c.2186-11323dup	ENSP00000508121.1:n.2186-11323dup
ENST00000684385.1:c.2221-3513dup	ENSP00000507855.1:n.2221-3513dup
ENST00000684497.1:c.2186-10353dup	ENSP00000507057.1:n.2186-10353dup
ENST00000382292.9:c.10879dup MANE Select	ENSP00000371729.3:p.Ile3627AsnfsTer?
ENST00000423156.2:c.2186-3513dup	ENSP00000390925.2:n.2186-3513dup
ENST00000455470.6:c.2432-3513dup	ENSP00000406565.2:n.2432-3513dup
ENST00000382292.7:c.10879dup	ENSP00000371729.3:p.Ile3627AsnfsTer?
ENST00000382298.7:c.10879dup	ENSP00000371735.3:p.Ile3627AsnfsTer?
ENST00000402364.1:c.8629dup	ENSP00000385844.1:p.Ile2877AsnfsTer?
ENST00000423156.1:c.1058-3513dup	ENSP00000390925.1:n.1058-3513dup
ENST00000455470.5:c.2130-3513dup
NM_001278055.1:c.10438dup	NP_001264984.1:p.Ile3480AsnfsTer?
NM_014363.5:c.10879dup	NP_055178.3:p.Ile3627AsnfsTer?
XM_005266338.1:c.10906dup	XP_005266395.1:p.Ile3636AsnfsTer?
XM_011535038.1:c.10930dup	XP_011533340.1:p.Ile3644AsnfsTer?
XM_011535039.1:c.10897dup	XP_011533341.1:p.Ile3633AsnfsTer?
XM_005266338.2:c.10906dup	XP_005266395.1:p.Ile3636AsnfsTer?
XM_011535039.2:c.10897dup	XP_011533341.1:p.Ile3633AsnfsTer?
XM_017020539.1:c.10870dup	XP_016876028.1:p.Ile3624AsnfsTer?
XM_024449337.1:c.10906dup	XP_024305105.1:p.Ile3636AsnfsTer?
NM_014363.6:c.10879dup MANE Select	NP_055178.3:p.Ile3627AsnfsTer?
NM_001278055.2:c.10438dup	NP_001264984.1:p.Ile3480AsnfsTer?