Canonical Allele Identifier: CA912980210

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23908486_23908489del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334347_23334350del , CM000675.2:g.23334347_23334350del	GRCh38
NC_000013.10:g.23908486_23908489del , CM000675.1:g.23908486_23908489del	GRCh37
NC_000013.9:g.22806486_22806489del	NCBI36
NG_012342.1:g.104354_104357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19436_2185+19439del	ENSP00000508399.1:n.2185+19436_2185+19439del
ENST00000682944.1:c.9554_9557del	ENSP00000507173.1:p.Thr3185IlefsTer4
ENST00000683210.1:c.2185+19436_2185+19439del	ENSP00000506739.1:n.2185+19436_2185+19439del
ENST00000683270.1:c.6445+3073_6445+3076del	ENSP00000507624.1:n.6445+3073_6445+3076del
ENST00000683367.1:c.2177-4865_2177-4862del	ENSP00000507780.1:n.2177-4865_2177-4862del
ENST00000683489.1:c.2292-4397_2292-4394del	ENSP00000508403.1:n.2292-4397_2292-4394del
ENST00000683680.1:c.2319-4397_2319-4394del	ENSP00000507223.1:n.2319-4397_2319-4394del
ENST00000684163.1:c.2204-4865_2204-4862del	ENSP00000508262.1:n.2204-4865_2204-4862del
ENST00000684196.1:n.4543-4865_4543-4862del
ENST00000684325.1:c.2186-12675_2186-12672del	ENSP00000508121.1:n.2186-12675_2186-12672del
ENST00000684385.1:c.2221-4865_2221-4862del	ENSP00000507855.1:n.2221-4865_2221-4862del
ENST00000684497.1:c.2186-11705_2186-11702del	ENSP00000507057.1:n.2186-11705_2186-11702del
ENST00000382292.9:c.9527_9530del MANE Select	ENSP00000371729.3:p.Thr3176IlefsTer4
ENST00000423156.2:c.2186-4865_2186-4862del	ENSP00000390925.2:n.2186-4865_2186-4862del
ENST00000455470.6:c.2432-4865_2432-4862del	ENSP00000406565.2:n.2432-4865_2432-4862del
ENST00000382292.7:c.9527_9530del	ENSP00000371729.3:p.Thr3176IlefsTer4
ENST00000382298.7:c.9527_9530del	ENSP00000371735.3:p.Thr3176IlefsTer4
ENST00000402364.1:c.7277_7280del	ENSP00000385844.1:p.Thr2426IlefsTer4
ENST00000423156.1:c.1058-4865_1058-4862del	ENSP00000390925.1:n.1058-4865_1058-4862del
ENST00000455470.5:c.2130-4865_2130-4862del
NM_001278055.1:c.9086_9089del	NP_001264984.1:p.Thr3029IlefsTer4
NM_014363.5:c.9527_9530del	NP_055178.3:p.Thr3176IlefsTer4
XM_005266338.1:c.9554_9557del	XP_005266395.1:p.Thr3185IlefsTer4
XM_011535038.1:c.9578_9581del	XP_011533340.1:p.Thr3193IlefsTer4
XM_011535039.1:c.9545_9548del	XP_011533341.1:p.Thr3182IlefsTer4
XM_005266338.2:c.9554_9557del	XP_005266395.1:p.Thr3185IlefsTer4
XM_011535039.2:c.9545_9548del	XP_011533341.1:p.Thr3182IlefsTer4
XM_017020539.1:c.9518_9521del	XP_016876028.1:p.Thr3173IlefsTer4
XM_024449337.1:c.9554_9557del	XP_024305105.1:p.Thr3185IlefsTer4
NM_014363.6:c.9527_9530del MANE Select	NP_055178.3:p.Thr3176IlefsTer4
NM_001278055.2:c.9086_9089del	NP_001264984.1:p.Thr3029IlefsTer4