Canonical Allele Identifier: CA2078633613

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333825_23333826delinsGA , CM000675.2:g.23333825_23333826delinsGA	GRCh38
NC_000013.10:g.23907964_23907965delinsGA , CM000675.1:g.23907964_23907965delinsGA	GRCh37
NC_000013.9:g.22805964_22805965delinsGA	NCBI36
NG_012342.1:g.104877_104878delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19959_2185+19960delinsTC	ENSP00000508399.1:n.2185+19959_2185+19960delinsTC
ENST00000682944.1:c.10077_10078delinsTC	ENSP00000507173.1:p.Cys3359=
ENST00000683210.1:c.2185+19959_2185+19960delinsTC	ENSP00000506739.1:n.2185+19959_2185+19960delinsTC
ENST00000683270.1:c.6445+3596_6445+3597delinsTC	ENSP00000507624.1:n.6445+3596_6445+3597delinsTC
ENST00000683367.1:c.2177-4342_2177-4341delinsTC	ENSP00000507780.1:n.2177-4342_2177-4341delinsTC
ENST00000683489.1:c.2292-3874_2292-3873delinsTC	ENSP00000508403.1:n.2292-3874_2292-3873delinsTC
ENST00000683680.1:c.2319-3874_2319-3873delinsTC	ENSP00000507223.1:n.2319-3874_2319-3873delinsTC
ENST00000684163.1:c.2204-4342_2204-4341delinsTC	ENSP00000508262.1:n.2204-4342_2204-4341delinsTC
ENST00000684196.1:n.4543-4342_4543-4341delinsTC
ENST00000684325.1:c.2186-12152_2186-12151delinsTC	ENSP00000508121.1:n.2186-12152_2186-12151delinsTC
ENST00000684385.1:c.2221-4342_2221-4341delinsTC	ENSP00000507855.1:n.2221-4342_2221-4341delinsTC
ENST00000684497.1:c.2186-11182_2186-11181delinsTC	ENSP00000507057.1:n.2186-11182_2186-11181delinsTC
ENST00000382292.9:c.10050_10051delinsTC MANE Select	ENSP00000371729.3:p.Cys3350=
ENST00000423156.2:c.2186-4342_2186-4341delinsTC	ENSP00000390925.2:n.2186-4342_2186-4341delinsTC
ENST00000455470.6:c.2432-4342_2432-4341delinsTC	ENSP00000406565.2:n.2432-4342_2432-4341delinsTC
ENST00000382292.7:c.10050_10051delinsTC	ENSP00000371729.3:p.Cys3350=
ENST00000382298.7:c.10050_10051delinsTC	ENSP00000371735.3:p.Cys3350=
ENST00000402364.1:c.7800_7801delinsTC	ENSP00000385844.1:p.Cys2600=
ENST00000423156.1:c.1058-4342_1058-4341delinsTC	ENSP00000390925.1:n.1058-4342_1058-4341delinsTC
ENST00000455470.5:c.2130-4342_2130-4341delinsTC
NM_001278055.1:c.9609_9610delinsTC	NP_001264984.1:p.Cys3203=
NM_014363.5:c.10050_10051delinsTC	NP_055178.3:p.Cys3350=
XM_005266338.1:c.10077_10078delinsTC	XP_005266395.1:p.Cys3359=
XM_011535038.1:c.10101_10102delinsTC	XP_011533340.1:p.Cys3367=
XM_011535039.1:c.10068_10069delinsTC	XP_011533341.1:p.Cys3356=
XM_005266338.2:c.10077_10078delinsTC	XP_005266395.1:p.Cys3359=
XM_011535039.2:c.10068_10069delinsTC	XP_011533341.1:p.Cys3356=
XM_017020539.1:c.10041_10042delinsTC	XP_016876028.1:p.Cys3347=
XM_024449337.1:c.10077_10078delinsTC	XP_024305105.1:p.Cys3359=
NM_014363.6:c.10050_10051delinsTC MANE Select	NP_055178.3:p.Cys3350=
NM_001278055.2:c.9609_9610delinsTC	NP_001264984.1:p.Cys3203=