Canonical Allele Identifier: CA2078628360

Gene: SACS

Linked Data

• dbSNP Id: rs1868811063

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337953_23337954del , CM000675.2:g.23337953_23337954del	GRCh38
NC_000013.10:g.23912092_23912093del , CM000675.1:g.23912092_23912093del	GRCh37
NC_000013.9:g.22810092_22810093del	NCBI36
NG_012342.1:g.100749_100750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15831_2185+15832del	ENSP00000508399.1:n.2185+15831_2185+15832del
ENST00000682944.1:c.5949_5950del	ENSP00000507173.1:p.Glu1983AspfsTer7
ENST00000683210.1:c.2185+15831_2185+15832del	ENSP00000506739.1:n.2185+15831_2185+15832del
ENST00000683270.1:c.5913_5914del	ENSP00000507624.1:p.Glu1971AspfsTer7
ENST00000683367.1:c.2177-8470_2177-8469del	ENSP00000507780.1:n.2177-8470_2177-8469del
ENST00000683489.1:c.2291+3631_2291+3632del	ENSP00000508403.1:n.2291+3631_2291+3632del
ENST00000683680.1:c.2318+3631_2318+3632del	ENSP00000507223.1:n.2318+3631_2318+3632del
ENST00000684163.1:c.2204-8470_2204-8469del	ENSP00000508262.1:n.2204-8470_2204-8469del
ENST00000684196.1:n.4543-8470_4543-8469del
ENST00000684325.1:c.2185+15831_2185+15832del	ENSP00000508121.1:n.2185+15831_2185+15832del
ENST00000684385.1:c.2221-8470_2221-8469del	ENSP00000507855.1:n.2221-8470_2221-8469del
ENST00000684497.1:c.2186-15310_2186-15309del	ENSP00000507057.1:n.2186-15310_2186-15309del
ENST00000382292.9:c.5922_5923del MANE Select	ENSP00000371729.3:p.Glu1974AspfsTer7
ENST00000423156.2:c.2186-8470_2186-8469del	ENSP00000390925.2:n.2186-8470_2186-8469del
ENST00000455470.6:c.2431+3491_2431+3492del	ENSP00000406565.2:n.2431+3491_2431+3492del
ENST00000382292.7:c.5922_5923del	ENSP00000371729.3:p.Glu1974AspfsTer7
ENST00000382298.7:c.5922_5923del	ENSP00000371735.3:p.Glu1974AspfsTer7
ENST00000402364.1:c.3672_3673del	ENSP00000385844.1:p.Glu1224AspfsTer7
ENST00000423156.1:c.1058-8470_1058-8469del	ENSP00000390925.1:n.1058-8470_1058-8469del
ENST00000455470.5:c.2129+3491_2129+3492del
NM_001278055.1:c.5481_5482del	NP_001264984.1:p.Glu1827AspfsTer7
NM_014363.5:c.5922_5923del	NP_055178.3:p.Glu1974AspfsTer7
XM_005266338.1:c.5949_5950del	XP_005266395.1:p.Glu1983AspfsTer7
XM_011535038.1:c.5973_5974del	XP_011533340.1:p.Glu1991AspfsTer7
XM_011535039.1:c.5940_5941del	XP_011533341.1:p.Glu1980AspfsTer7
XM_005266338.2:c.5949_5950del	XP_005266395.1:p.Glu1983AspfsTer7
XM_011535039.2:c.5940_5941del	XP_011533341.1:p.Glu1980AspfsTer7
XM_017020539.1:c.5913_5914del	XP_016876028.1:p.Glu1971AspfsTer7
XM_024449337.1:c.5949_5950del	XP_024305105.1:p.Glu1983AspfsTer7
NM_014363.6:c.5922_5923del MANE Select	NP_055178.3:p.Glu1974AspfsTer7
NM_001278055.2:c.5481_5482del	NP_001264984.1:p.Glu1827AspfsTer7