Canonical Allele Identifier: CA912980204

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23908235_23908238del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334096_23334099del , CM000675.2:g.23334096_23334099del	GRCh38
NC_000013.10:g.23908235_23908238del , CM000675.1:g.23908235_23908238del	GRCh37
NC_000013.9:g.22806235_22806238del	NCBI36
NG_012342.1:g.104604_104607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19686_2185+19689del	ENSP00000508399.1:n.2185+19686_2185+19689del
ENST00000682944.1:c.9804_9807del	ENSP00000507173.1:p.Glu3268AspfsTer16
ENST00000683210.1:c.2185+19686_2185+19689del	ENSP00000506739.1:n.2185+19686_2185+19689del
ENST00000683270.1:c.6445+3323_6445+3326del	ENSP00000507624.1:n.6445+3323_6445+3326del
ENST00000683367.1:c.2177-4615_2177-4612del	ENSP00000507780.1:n.2177-4615_2177-4612del
ENST00000683489.1:c.2292-4147_2292-4144del	ENSP00000508403.1:n.2292-4147_2292-4144del
ENST00000683680.1:c.2319-4147_2319-4144del	ENSP00000507223.1:n.2319-4147_2319-4144del
ENST00000684163.1:c.2204-4615_2204-4612del	ENSP00000508262.1:n.2204-4615_2204-4612del
ENST00000684196.1:n.4543-4615_4543-4612del
ENST00000684325.1:c.2186-12425_2186-12422del	ENSP00000508121.1:n.2186-12425_2186-12422del
ENST00000684385.1:c.2221-4615_2221-4612del	ENSP00000507855.1:n.2221-4615_2221-4612del
ENST00000684497.1:c.2186-11455_2186-11452del	ENSP00000507057.1:n.2186-11455_2186-11452del
ENST00000382292.9:c.9777_9780del MANE Select	ENSP00000371729.3:p.Glu3259AspfsTer16
ENST00000423156.2:c.2186-4615_2186-4612del	ENSP00000390925.2:n.2186-4615_2186-4612del
ENST00000455470.6:c.2432-4615_2432-4612del	ENSP00000406565.2:n.2432-4615_2432-4612del
ENST00000382292.7:c.9777_9780del	ENSP00000371729.3:p.Glu3259AspfsTer16
ENST00000382298.7:c.9777_9780del	ENSP00000371735.3:p.Glu3259AspfsTer16
ENST00000402364.1:c.7527_7530del	ENSP00000385844.1:p.Glu2509AspfsTer16
ENST00000423156.1:c.1058-4615_1058-4612del	ENSP00000390925.1:n.1058-4615_1058-4612del
ENST00000455470.5:c.2130-4615_2130-4612del
NM_001278055.1:c.9336_9339del	NP_001264984.1:p.Glu3112AspfsTer16
NM_014363.5:c.9777_9780del	NP_055178.3:p.Glu3259AspfsTer16
XM_005266338.1:c.9804_9807del	XP_005266395.1:p.Glu3268AspfsTer16
XM_011535038.1:c.9828_9831del	XP_011533340.1:p.Glu3276AspfsTer16
XM_011535039.1:c.9795_9798del	XP_011533341.1:p.Glu3265AspfsTer16
XM_005266338.2:c.9804_9807del	XP_005266395.1:p.Glu3268AspfsTer16
XM_011535039.2:c.9795_9798del	XP_011533341.1:p.Glu3265AspfsTer16
XM_017020539.1:c.9768_9771del	XP_016876028.1:p.Glu3256AspfsTer16
XM_024449337.1:c.9804_9807del	XP_024305105.1:p.Glu3268AspfsTer16
NM_014363.6:c.9777_9780del MANE Select	NP_055178.3:p.Glu3259AspfsTer16
NM_001278055.2:c.9336_9339del	NP_001264984.1:p.Glu3112AspfsTer16