Canonical Allele Identifier: CA2539350909

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334854_23334855insTATTCCTGTTAGTTAT , CM000675.2:g.23334854_23334855insTATTCCTGTTAGTTAT	GRCh38
NC_000013.10:g.23908993_23908994insTATTCCTGTTAGTTAT , CM000675.1:g.23908993_23908994insTATTCCTGTTAGTTAT	GRCh37
NC_000013.9:g.22806993_22806994insTATTCCTGTTAGTTAT	NCBI36
NG_012342.1:g.103848_103849insATAACTAACAGGAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18930_2185+18931insATAACTAACAGGAATA	ENSP00000508399.1:n.2185+18930_2185+18931insATAACTAACAGGAATA
ENST00000682944.1:c.9048_9049insATAACTAACAGGAATA	ENSP00000507173.1:p.Ser3017IlefsTer19
ENST00000683210.1:c.2185+18930_2185+18931insATAACTAACAGGAATA	ENSP00000506739.1:n.2185+18930_2185+18931insATAACTAACAGGAATA
ENST00000683270.1:c.6445+2567_6445+2568insATAACTAACAGGAATA	ENSP00000507624.1:n.6445+2567_6445+2568insATAACTAACAGGAATA
ENST00000683367.1:c.2177-5371_2177-5370insATAACTAACAGGAATA	ENSP00000507780.1:n.2177-5371_2177-5370insATAACTAACAGGAATA
ENST00000683489.1:c.2292-4903_2292-4902insATAACTAACAGGAATA	ENSP00000508403.1:n.2292-4903_2292-4902insATAACTAACAGGAATA
ENST00000683680.1:c.2319-4903_2319-4902insATAACTAACAGGAATA	ENSP00000507223.1:n.2319-4903_2319-4902insATAACTAACAGGAATA
ENST00000684163.1:c.2204-5371_2204-5370insATAACTAACAGGAATA	ENSP00000508262.1:n.2204-5371_2204-5370insATAACTAACAGGAATA
ENST00000684196.1:n.4543-5371_4543-5370insATAACTAACAGGAATA
ENST00000684325.1:c.2186-13181_2186-13180insATAACTAACAGGAATA	ENSP00000508121.1:n.2186-13181_2186-13180insATAACTAACAGGAATA
ENST00000684385.1:c.2221-5371_2221-5370insATAACTAACAGGAATA	ENSP00000507855.1:n.2221-5371_2221-5370insATAACTAACAGGAATA
ENST00000684497.1:c.2186-12211_2186-12210insATAACTAACAGGAATA	ENSP00000507057.1:n.2186-12211_2186-12210insATAACTAACAGGAATA
ENST00000382292.9:c.9021_9022insATAACTAACAGGAATA MANE Select	ENSP00000371729.3:p.Ser3008IlefsTer19
ENST00000423156.2:c.2186-5371_2186-5370insATAACTAACAGGAATA	ENSP00000390925.2:n.2186-5371_2186-5370insATAACTAACAGGAATA
ENST00000455470.6:c.2432-5371_2432-5370insATAACTAACAGGAATA	ENSP00000406565.2:n.2432-5371_2432-5370insATAACTAACAGGAATA
ENST00000382292.7:c.9021_9022insATAACTAACAGGAATA	ENSP00000371729.3:p.Ser3008IlefsTer19
ENST00000382298.7:c.9021_9022insATAACTAACAGGAATA	ENSP00000371735.3:p.Ser3008IlefsTer19
ENST00000402364.1:c.6771_6772insATAACTAACAGGAATA	ENSP00000385844.1:p.Ser2258IlefsTer19
ENST00000423156.1:c.1058-5371_1058-5370insATAACTAACAGGAATA	ENSP00000390925.1:n.1058-5371_1058-5370insATAACTAACAGGAATA
ENST00000455470.5:c.2130-5371_2130-5370insATAACTAACAGGAATA
NM_001278055.1:c.8580_8581insATAACTAACAGGAATA	NP_001264984.1:p.Ser2861IlefsTer19
NM_014363.5:c.9021_9022insATAACTAACAGGAATA	NP_055178.3:p.Ser3008IlefsTer19
XM_005266338.1:c.9048_9049insATAACTAACAGGAATA	XP_005266395.1:p.Ser3017IlefsTer19
XM_011535038.1:c.9072_9073insATAACTAACAGGAATA	XP_011533340.1:p.Ser3025IlefsTer19
XM_011535039.1:c.9039_9040insATAACTAACAGGAATA	XP_011533341.1:p.Ser3014IlefsTer19
XM_005266338.2:c.9048_9049insATAACTAACAGGAATA	XP_005266395.1:p.Ser3017IlefsTer19
XM_011535039.2:c.9039_9040insATAACTAACAGGAATA	XP_011533341.1:p.Ser3014IlefsTer19
XM_017020539.1:c.9012_9013insATAACTAACAGGAATA	XP_016876028.1:p.Ser3005IlefsTer19
XM_024449337.1:c.9048_9049insATAACTAACAGGAATA	XP_024305105.1:p.Ser3017IlefsTer19
NM_014363.6:c.9021_9022insATAACTAACAGGAATA MANE Select	NP_055178.3:p.Ser3008IlefsTer19
NM_001278055.2:c.8580_8581insATAACTAACAGGAATA	NP_001264984.1:p.Ser2861IlefsTer19