Canonical Allele Identifier: CA916083344

Gene: SACS

Linked Data

• ClinVar Variation Id: 836040
• ClinVar RCV Id: RCV001037067
• dbSNP Id: rs772704931

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333920_23333921dup , CM000675.2:g.23333920_23333921dup	GRCh38
NC_000013.10:g.23908059_23908060dup , CM000675.1:g.23908059_23908060dup	GRCh37
NC_000013.9:g.22806059_22806060dup	NCBI36
NG_012342.1:g.104783_104784dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19865_2185+19866dup	ENSP00000508399.1:n.2185+19865_2185+19866dup
ENST00000682944.1:c.9983_9984dup	ENSP00000507173.1:p.Val3329LysfsTer6
ENST00000683210.1:c.2185+19865_2185+19866dup	ENSP00000506739.1:n.2185+19865_2185+19866dup
ENST00000683270.1:c.6445+3502_6445+3503dup	ENSP00000507624.1:n.6445+3502_6445+3503dup
ENST00000683367.1:c.2177-4436_2177-4435dup	ENSP00000507780.1:n.2177-4436_2177-4435dup
ENST00000683489.1:c.2292-3968_2292-3967dup	ENSP00000508403.1:n.2292-3968_2292-3967dup
ENST00000683680.1:c.2319-3968_2319-3967dup	ENSP00000507223.1:n.2319-3968_2319-3967dup
ENST00000684163.1:c.2204-4436_2204-4435dup	ENSP00000508262.1:n.2204-4436_2204-4435dup
ENST00000684196.1:n.4543-4436_4543-4435dup
ENST00000684325.1:c.2186-12246_2186-12245dup	ENSP00000508121.1:n.2186-12246_2186-12245dup
ENST00000684385.1:c.2221-4436_2221-4435dup	ENSP00000507855.1:n.2221-4436_2221-4435dup
ENST00000684497.1:c.2186-11276_2186-11275dup	ENSP00000507057.1:n.2186-11276_2186-11275dup
ENST00000382292.9:c.9956_9957dup MANE Select	ENSP00000371729.3:p.Val3320LysfsTer6
ENST00000423156.2:c.2186-4436_2186-4435dup	ENSP00000390925.2:n.2186-4436_2186-4435dup
ENST00000455470.6:c.2432-4436_2432-4435dup	ENSP00000406565.2:n.2432-4436_2432-4435dup
ENST00000382292.7:c.9956_9957dup	ENSP00000371729.3:p.Val3320LysfsTer6
ENST00000382298.7:c.9956_9957dup	ENSP00000371735.3:p.Val3320LysfsTer6
ENST00000402364.1:c.7706_7707dup	ENSP00000385844.1:p.Val2570LysfsTer6
ENST00000423156.1:c.1058-4436_1058-4435dup	ENSP00000390925.1:n.1058-4436_1058-4435dup
ENST00000455470.5:c.2130-4436_2130-4435dup
NM_001278055.1:c.9515_9516dup	NP_001264984.1:p.Val3173LysfsTer6
NM_014363.5:c.9956_9957dup	NP_055178.3:p.Val3320LysfsTer6
XM_005266338.1:c.9983_9984dup	XP_005266395.1:p.Val3329LysfsTer6
XM_011535038.1:c.10007_10008dup	XP_011533340.1:p.Val3337LysfsTer6
XM_011535039.1:c.9974_9975dup	XP_011533341.1:p.Val3326LysfsTer6
XM_005266338.2:c.9983_9984dup	XP_005266395.1:p.Val3329LysfsTer6
XM_011535039.2:c.9974_9975dup	XP_011533341.1:p.Val3326LysfsTer6
XM_017020539.1:c.9947_9948dup	XP_016876028.1:p.Val3317LysfsTer6
XM_024449337.1:c.9983_9984dup	XP_024305105.1:p.Val3329LysfsTer6
NM_014363.6:c.9956_9957dup MANE Select	NP_055178.3:p.Val3320LysfsTer6
NM_001278055.2:c.9515_9516dup	NP_001264984.1:p.Val3173LysfsTer6