Canonical Allele Identifier: CA2078633188

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333422_23333423delinsAT , CM000675.2:g.23333422_23333423delinsAT	GRCh38
NC_000013.10:g.23907561_23907562delinsAT , CM000675.1:g.23907561_23907562delinsAT	GRCh37
NC_000013.9:g.22805561_22805562delinsAT	NCBI36
NG_012342.1:g.105280_105281delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20362_2185+20363delinsAT	ENSP00000508399.1:n.2185+20362_2185+20363delinsAT
ENST00000682944.1:c.10480_10481delinsAT	ENSP00000507173.1:p.Ile3494=
ENST00000683210.1:c.2185+20362_2185+20363delinsAT	ENSP00000506739.1:n.2185+20362_2185+20363delinsAT
ENST00000683270.1:c.6446-3939_6446-3938delinsAT	ENSP00000507624.1:n.6446-3939_6446-3938delinsAT
ENST00000683367.1:c.2177-3939_2177-3938delinsAT	ENSP00000507780.1:n.2177-3939_2177-3938delinsAT
ENST00000683489.1:c.2292-3471_2292-3470delinsAT	ENSP00000508403.1:n.2292-3471_2292-3470delinsAT
ENST00000683680.1:c.2319-3471_2319-3470delinsAT	ENSP00000507223.1:n.2319-3471_2319-3470delinsAT
ENST00000684163.1:c.2204-3939_2204-3938delinsAT	ENSP00000508262.1:n.2204-3939_2204-3938delinsAT
ENST00000684196.1:n.4543-3939_4543-3938delinsAT
ENST00000684325.1:c.2186-11749_2186-11748delinsAT	ENSP00000508121.1:n.2186-11749_2186-11748delinsAT
ENST00000684385.1:c.2221-3939_2221-3938delinsAT	ENSP00000507855.1:n.2221-3939_2221-3938delinsAT
ENST00000684497.1:c.2186-10779_2186-10778delinsAT	ENSP00000507057.1:n.2186-10779_2186-10778delinsAT
ENST00000382292.9:c.10453_10454delinsAT MANE Select	ENSP00000371729.3:p.Ile3485=
ENST00000423156.2:c.2186-3939_2186-3938delinsAT	ENSP00000390925.2:n.2186-3939_2186-3938delinsAT
ENST00000455470.6:c.2432-3939_2432-3938delinsAT	ENSP00000406565.2:n.2432-3939_2432-3938delinsAT
ENST00000382292.7:c.10453_10454delinsAT	ENSP00000371729.3:p.Ile3485=
ENST00000382298.7:c.10453_10454delinsAT	ENSP00000371735.3:p.Ile3485=
ENST00000402364.1:c.8203_8204delinsAT	ENSP00000385844.1:p.Ile2735=
ENST00000423156.1:c.1058-3939_1058-3938delinsAT	ENSP00000390925.1:n.1058-3939_1058-3938delinsAT
ENST00000455470.5:c.2130-3939_2130-3938delinsAT
NM_001278055.1:c.10012_10013delinsAT	NP_001264984.1:p.Ile3338=
NM_014363.5:c.10453_10454delinsAT	NP_055178.3:p.Ile3485=
XM_005266338.1:c.10480_10481delinsAT	XP_005266395.1:p.Ile3494=
XM_011535038.1:c.10504_10505delinsAT	XP_011533340.1:p.Ile3502=
XM_011535039.1:c.10471_10472delinsAT	XP_011533341.1:p.Ile3491=
XM_005266338.2:c.10480_10481delinsAT	XP_005266395.1:p.Ile3494=
XM_011535039.2:c.10471_10472delinsAT	XP_011533341.1:p.Ile3491=
XM_017020539.1:c.10444_10445delinsAT	XP_016876028.1:p.Ile3482=
XM_024449337.1:c.10480_10481delinsAT	XP_024305105.1:p.Ile3494=
NM_014363.6:c.10453_10454delinsAT MANE Select	NP_055178.3:p.Ile3485=
NM_001278055.2:c.10012_10013delinsAT	NP_001264984.1:p.Ile3338=