Canonical Allele Identifier: CA912980208

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23912395_23912397del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338257_23338259del , CM000675.2:g.23338257_23338259del	GRCh38
NC_000013.10:g.23912396_23912398del , CM000675.1:g.23912396_23912398del	GRCh37
NC_000013.9:g.22810396_22810398del	NCBI36
NG_012342.1:g.100445_100447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15527_2185+15529del	ENSP00000508399.1:n.2185+15527_2185+15529del
ENST00000682944.1:c.5645_5647del	ENSP00000507173.1:p.Tyr1882del
ENST00000683210.1:c.2185+15527_2185+15529del	ENSP00000506739.1:n.2185+15527_2185+15529del
ENST00000683270.1:c.5609_5611del	ENSP00000507624.1:p.Tyr1870del
ENST00000683367.1:c.2177-8774_2177-8772del	ENSP00000507780.1:n.2177-8774_2177-8772del
ENST00000683489.1:c.2291+3327_2291+3329del	ENSP00000508403.1:n.2291+3327_2291+3329del
ENST00000683680.1:c.2318+3327_2318+3329del	ENSP00000507223.1:n.2318+3327_2318+3329del
ENST00000684163.1:c.2203+8553_2203+8555del	ENSP00000508262.1:n.2203+8553_2203+8555del
ENST00000684196.1:n.4543-8774_4543-8772del
ENST00000684325.1:c.2185+15527_2185+15529del	ENSP00000508121.1:n.2185+15527_2185+15529del
ENST00000684385.1:c.2220+8553_2220+8555del	ENSP00000507855.1:n.2220+8553_2220+8555del
ENST00000684497.1:c.2185+15527_2185+15529del	ENSP00000507057.1:n.2185+15527_2185+15529del
ENST00000382292.9:c.5618_5620del MANE Select	ENSP00000371729.3:p.Tyr1873del
ENST00000423156.2:c.2186-8774_2186-8772del	ENSP00000390925.2:n.2186-8774_2186-8772del
ENST00000455470.6:c.2431+3187_2431+3189del	ENSP00000406565.2:n.2431+3187_2431+3189del
ENST00000382292.7:c.5618_5620del	ENSP00000371729.3:p.Tyr1873del
ENST00000382298.7:c.5618_5620del	ENSP00000371735.3:p.Tyr1873del
ENST00000402364.1:c.3368_3370del	ENSP00000385844.1:p.Tyr1123del
ENST00000423156.1:c.1058-8774_1058-8772del	ENSP00000390925.1:n.1058-8774_1058-8772del
ENST00000455470.5:c.2129+3187_2129+3189del
NM_001278055.1:c.5177_5179del	NP_001264984.1:p.Tyr1726del
NM_014363.5:c.5618_5620del	NP_055178.3:p.Tyr1873del
XM_005266338.1:c.5645_5647del	XP_005266395.1:p.Tyr1882del
XM_011535038.1:c.5669_5671del	XP_011533340.1:p.Tyr1890del
XM_011535039.1:c.5636_5638del	XP_011533341.1:p.Tyr1879del
XM_005266338.2:c.5645_5647del	XP_005266395.1:p.Tyr1882del
XM_011535039.2:c.5636_5638del	XP_011533341.1:p.Tyr1879del
XM_017020539.1:c.5609_5611del	XP_016876028.1:p.Tyr1870del
XM_024449337.1:c.5645_5647del	XP_024305105.1:p.Tyr1882del
NM_014363.6:c.5618_5620del MANE Select	NP_055178.3:p.Tyr1873del
NM_001278055.2:c.5177_5179del	NP_001264984.1:p.Tyr1726del