Canonical Allele Identifier: CA2078633730

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333918_23333920delinsCTT , CM000675.2:g.23333918_23333920delinsCTT	GRCh38
NC_000013.10:g.23908057_23908059delinsCTT , CM000675.1:g.23908057_23908059delinsCTT	GRCh37
NC_000013.9:g.22806057_22806059delinsCTT	NCBI36
NG_012342.1:g.104783_104785delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19865_2185+19867delinsAAG	ENSP00000508399.1:n.2185+19865_2185+19867delinsAAG
ENST00000682944.1:c.9983_9985delinsAAG	ENSP00000507173.1:p.Lys3328=
ENST00000683210.1:c.2185+19865_2185+19867delinsAAG	ENSP00000506739.1:n.2185+19865_2185+19867delinsAAG
ENST00000683270.1:c.6445+3502_6445+3504delinsAAG	ENSP00000507624.1:n.6445+3502_6445+3504delinsAAG
ENST00000683367.1:c.2177-4436_2177-4434delinsAAG	ENSP00000507780.1:n.2177-4436_2177-4434delinsAAG
ENST00000683489.1:c.2292-3968_2292-3966delinsAAG	ENSP00000508403.1:n.2292-3968_2292-3966delinsAAG
ENST00000683680.1:c.2319-3968_2319-3966delinsAAG	ENSP00000507223.1:n.2319-3968_2319-3966delinsAAG
ENST00000684163.1:c.2204-4436_2204-4434delinsAAG	ENSP00000508262.1:n.2204-4436_2204-4434delinsAAG
ENST00000684196.1:n.4543-4436_4543-4434delinsAAG
ENST00000684325.1:c.2186-12246_2186-12244delinsAAG	ENSP00000508121.1:n.2186-12246_2186-12244delinsAAG
ENST00000684385.1:c.2221-4436_2221-4434delinsAAG	ENSP00000507855.1:n.2221-4436_2221-4434delinsAAG
ENST00000684497.1:c.2186-11276_2186-11274delinsAAG	ENSP00000507057.1:n.2186-11276_2186-11274delinsAAG
ENST00000382292.9:c.9956_9958delinsAAG MANE Select	ENSP00000371729.3:p.Lys3319=
ENST00000423156.2:c.2186-4436_2186-4434delinsAAG	ENSP00000390925.2:n.2186-4436_2186-4434delinsAAG
ENST00000455470.6:c.2432-4436_2432-4434delinsAAG	ENSP00000406565.2:n.2432-4436_2432-4434delinsAAG
ENST00000382292.7:c.9956_9958delinsAAG	ENSP00000371729.3:p.Lys3319=
ENST00000382298.7:c.9956_9958delinsAAG	ENSP00000371735.3:p.Lys3319=
ENST00000402364.1:c.7706_7708delinsAAG	ENSP00000385844.1:p.Lys2569=
ENST00000423156.1:c.1058-4436_1058-4434delinsAAG	ENSP00000390925.1:n.1058-4436_1058-4434delinsAAG
ENST00000455470.5:c.2130-4436_2130-4434delinsAAG
NM_001278055.1:c.9515_9517delinsAAG	NP_001264984.1:p.Lys3172=
NM_014363.5:c.9956_9958delinsAAG	NP_055178.3:p.Lys3319=
XM_005266338.1:c.9983_9985delinsAAG	XP_005266395.1:p.Lys3328=
XM_011535038.1:c.10007_10009delinsAAG	XP_011533340.1:p.Lys3336=
XM_011535039.1:c.9974_9976delinsAAG	XP_011533341.1:p.Lys3325=
XM_005266338.2:c.9983_9985delinsAAG	XP_005266395.1:p.Lys3328=
XM_011535039.2:c.9974_9976delinsAAG	XP_011533341.1:p.Lys3325=
XM_017020539.1:c.9947_9949delinsAAG	XP_016876028.1:p.Lys3316=
XM_024449337.1:c.9983_9985delinsAAG	XP_024305105.1:p.Lys3328=
NM_014363.6:c.9956_9958delinsAAG MANE Select	NP_055178.3:p.Lys3319=
NM_001278055.2:c.9515_9517delinsAAG	NP_001264984.1:p.Lys3172=