Canonical Allele Identifier: CA2798500217

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333889_23333897del , CM000675.2:g.23333889_23333897del	GRCh38
NC_000013.10:g.23908028_23908036del , CM000675.1:g.23908028_23908036del	GRCh37
NC_000013.9:g.22806028_22806036del	NCBI36
NG_012342.1:g.104806_104814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19888_2185+19896del	ENSP00000508399.1:n.2185+19888_2185+19896del
ENST00000682944.1:c.10006_10014del	ENSP00000507173.1:p.Ala3336_Cys3338del
ENST00000683210.1:c.2185+19888_2185+19896del	ENSP00000506739.1:n.2185+19888_2185+19896del
ENST00000683270.1:c.6445+3525_6445+3533del	ENSP00000507624.1:n.6445+3525_6445+3533del
ENST00000683367.1:c.2177-4413_2177-4405del	ENSP00000507780.1:n.2177-4413_2177-4405del
ENST00000683489.1:c.2292-3945_2292-3937del	ENSP00000508403.1:n.2292-3945_2292-3937del
ENST00000683680.1:c.2319-3945_2319-3937del	ENSP00000507223.1:n.2319-3945_2319-3937del
ENST00000684163.1:c.2204-4413_2204-4405del	ENSP00000508262.1:n.2204-4413_2204-4405del
ENST00000684196.1:n.4543-4413_4543-4405del
ENST00000684325.1:c.2186-12223_2186-12215del	ENSP00000508121.1:n.2186-12223_2186-12215del
ENST00000684385.1:c.2221-4413_2221-4405del	ENSP00000507855.1:n.2221-4413_2221-4405del
ENST00000684497.1:c.2186-11253_2186-11245del	ENSP00000507057.1:n.2186-11253_2186-11245del
ENST00000382292.9:c.9979_9987del MANE Select	ENSP00000371729.3:p.Ala3327_Cys3329del
ENST00000423156.2:c.2186-4413_2186-4405del	ENSP00000390925.2:n.2186-4413_2186-4405del
ENST00000455470.6:c.2432-4413_2432-4405del	ENSP00000406565.2:n.2432-4413_2432-4405del
ENST00000382292.7:c.9979_9987del	ENSP00000371729.3:p.Ala3327_Cys3329del
ENST00000382298.7:c.9979_9987del	ENSP00000371735.3:p.Ala3327_Cys3329del
ENST00000402364.1:c.7729_7737del	ENSP00000385844.1:p.Ala2577_Cys2579del
ENST00000423156.1:c.1058-4413_1058-4405del	ENSP00000390925.1:n.1058-4413_1058-4405del
ENST00000455470.5:c.2130-4413_2130-4405del
NM_001278055.1:c.9538_9546del	NP_001264984.1:p.Ala3180_Cys3182del
NM_014363.5:c.9979_9987del	NP_055178.3:p.Ala3327_Cys3329del
XM_005266338.1:c.10006_10014del	XP_005266395.1:p.Ala3336_Cys3338del
XM_011535038.1:c.10030_10038del	XP_011533340.1:p.Ala3344_Cys3346del
XM_011535039.1:c.9997_10005del	XP_011533341.1:p.Ala3333_Cys3335del
XM_005266338.2:c.10006_10014del	XP_005266395.1:p.Ala3336_Cys3338del
XM_011535039.2:c.9997_10005del	XP_011533341.1:p.Ala3333_Cys3335del
XM_017020539.1:c.9970_9978del	XP_016876028.1:p.Ala3324_Cys3326del
XM_024449337.1:c.10006_10014del	XP_024305105.1:p.Ala3336_Cys3338del
NM_014363.6:c.9979_9987del MANE Select	NP_055178.3:p.Ala3327_Cys3329del
NM_001278055.2:c.9538_9546del	NP_001264984.1:p.Ala3180_Cys3182del