Canonical Allele Identifier: CA2078632117

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332862_23332864delinsCTT , CM000675.2:g.23332862_23332864delinsCTT	GRCh38
NC_000013.10:g.23907001_23907003delinsCTT , CM000675.1:g.23907001_23907003delinsCTT	GRCh37
NC_000013.9:g.22805001_22805003delinsCTT	NCBI36
NG_012342.1:g.105839_105841delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20749_2186-20747delinsAAG	ENSP00000508399.1:n.2186-20749_2186-20747delinsAAG
ENST00000682944.1:c.11039_11041delinsAAG	ENSP00000507173.1:p.Gln3680=
ENST00000683210.1:c.2185+20921_2185+20923delinsAAG	ENSP00000506739.1:n.2185+20921_2185+20923delinsAAG
ENST00000683270.1:c.6446-3380_6446-3378delinsAAG	ENSP00000507624.1:n.6446-3380_6446-3378delinsAAG
ENST00000683367.1:c.2177-3380_2177-3378delinsAAG	ENSP00000507780.1:n.2177-3380_2177-3378delinsAAG
ENST00000683489.1:c.2292-2912_2292-2910delinsAAG	ENSP00000508403.1:n.2292-2912_2292-2910delinsAAG
ENST00000683680.1:c.2319-2912_2319-2910delinsAAG	ENSP00000507223.1:n.2319-2912_2319-2910delinsAAG
ENST00000684163.1:c.2204-3380_2204-3378delinsAAG	ENSP00000508262.1:n.2204-3380_2204-3378delinsAAG
ENST00000684196.1:n.4543-3380_4543-3378delinsAAG
ENST00000684325.1:c.2186-11190_2186-11188delinsAAG	ENSP00000508121.1:n.2186-11190_2186-11188delinsAAG
ENST00000684385.1:c.2221-3380_2221-3378delinsAAG	ENSP00000507855.1:n.2221-3380_2221-3378delinsAAG
ENST00000684497.1:c.2186-10220_2186-10218delinsAAG	ENSP00000507057.1:n.2186-10220_2186-10218delinsAAG
ENST00000382292.9:c.11012_11014delinsAAG MANE Select	ENSP00000371729.3:p.Gln3671=
ENST00000423156.2:c.2186-3380_2186-3378delinsAAG	ENSP00000390925.2:n.2186-3380_2186-3378delinsAAG
ENST00000455470.6:c.2432-3380_2432-3378delinsAAG	ENSP00000406565.2:n.2432-3380_2432-3378delinsAAG
ENST00000382292.7:c.11012_11014delinsAAG	ENSP00000371729.3:p.Gln3671=
ENST00000382298.7:c.11012_11014delinsAAG	ENSP00000371735.3:p.Gln3671=
ENST00000402364.1:c.8762_8764delinsAAG	ENSP00000385844.1:p.Gln2921=
ENST00000423156.1:c.1058-3380_1058-3378delinsAAG	ENSP00000390925.1:n.1058-3380_1058-3378delinsAAG
ENST00000455470.5:c.2130-3380_2130-3378delinsAAG
NM_001278055.1:c.10571_10573delinsAAG	NP_001264984.1:p.Gln3524=
NM_014363.5:c.11012_11014delinsAAG	NP_055178.3:p.Gln3671=
XM_005266338.1:c.11039_11041delinsAAG	XP_005266395.1:p.Gln3680=
XM_011535038.1:c.11063_11065delinsAAG	XP_011533340.1:p.Gln3688=
XM_011535039.1:c.11030_11032delinsAAG	XP_011533341.1:p.Gln3677=
XM_005266338.2:c.11039_11041delinsAAG	XP_005266395.1:p.Gln3680=
XM_011535039.2:c.11030_11032delinsAAG	XP_011533341.1:p.Gln3677=
XM_017020539.1:c.11003_11005delinsAAG	XP_016876028.1:p.Gln3668=
XM_024449337.1:c.11039_11041delinsAAG	XP_024305105.1:p.Gln3680=
NM_014363.6:c.11012_11014delinsAAG MANE Select	NP_055178.3:p.Gln3671=
NM_001278055.2:c.10571_10573delinsAAG	NP_001264984.1:p.Gln3524=