Canonical Allele Identifier: CA2078628962

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338256_23338258delinsAAT , CM000675.2:g.23338256_23338258delinsAAT	GRCh38
NC_000013.10:g.23912395_23912397delinsAAT , CM000675.1:g.23912395_23912397delinsAAT	GRCh37
NC_000013.9:g.22810395_22810397delinsAAT	NCBI36
NG_012342.1:g.100445_100447delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15527_2185+15529delinsATT	ENSP00000508399.1:n.2185+15527_2185+15529delinsATT
ENST00000682944.1:c.5645_5647delinsATT	ENSP00000507173.1:p.Tyr1882=
ENST00000683210.1:c.2185+15527_2185+15529delinsATT	ENSP00000506739.1:n.2185+15527_2185+15529delinsATT
ENST00000683270.1:c.5609_5611delinsATT	ENSP00000507624.1:p.Tyr1870=
ENST00000683367.1:c.2177-8774_2177-8772delinsATT	ENSP00000507780.1:n.2177-8774_2177-8772delinsATT
ENST00000683489.1:c.2291+3327_2291+3329delinsATT	ENSP00000508403.1:n.2291+3327_2291+3329delinsATT
ENST00000683680.1:c.2318+3327_2318+3329delinsATT	ENSP00000507223.1:n.2318+3327_2318+3329delinsATT
ENST00000684163.1:c.2203+8553_2203+8555delinsATT	ENSP00000508262.1:n.2203+8553_2203+8555delinsATT
ENST00000684196.1:n.4543-8774_4543-8772delinsATT
ENST00000684325.1:c.2185+15527_2185+15529delinsATT	ENSP00000508121.1:n.2185+15527_2185+15529delinsATT
ENST00000684385.1:c.2220+8553_2220+8555delinsATT	ENSP00000507855.1:n.2220+8553_2220+8555delinsATT
ENST00000684497.1:c.2185+15527_2185+15529delinsATT	ENSP00000507057.1:n.2185+15527_2185+15529delinsATT
ENST00000382292.9:c.5618_5620delinsATT MANE Select	ENSP00000371729.3:p.Tyr1873=
ENST00000423156.2:c.2186-8774_2186-8772delinsATT	ENSP00000390925.2:n.2186-8774_2186-8772delinsATT
ENST00000455470.6:c.2431+3187_2431+3189delinsATT	ENSP00000406565.2:n.2431+3187_2431+3189delinsATT
ENST00000382292.7:c.5618_5620delinsATT	ENSP00000371729.3:p.Tyr1873=
ENST00000382298.7:c.5618_5620delinsATT	ENSP00000371735.3:p.Tyr1873=
ENST00000402364.1:c.3368_3370delinsATT	ENSP00000385844.1:p.Tyr1123=
ENST00000423156.1:c.1058-8774_1058-8772delinsATT	ENSP00000390925.1:n.1058-8774_1058-8772delinsATT
ENST00000455470.5:c.2129+3187_2129+3189delinsATT
NM_001278055.1:c.5177_5179delinsATT	NP_001264984.1:p.Tyr1726=
NM_014363.5:c.5618_5620delinsATT	NP_055178.3:p.Tyr1873=
XM_005266338.1:c.5645_5647delinsATT	XP_005266395.1:p.Tyr1882=
XM_011535038.1:c.5669_5671delinsATT	XP_011533340.1:p.Tyr1890=
XM_011535039.1:c.5636_5638delinsATT	XP_011533341.1:p.Tyr1879=
XM_005266338.2:c.5645_5647delinsATT	XP_005266395.1:p.Tyr1882=
XM_011535039.2:c.5636_5638delinsATT	XP_011533341.1:p.Tyr1879=
XM_017020539.1:c.5609_5611delinsATT	XP_016876028.1:p.Tyr1870=
XM_024449337.1:c.5645_5647delinsATT	XP_024305105.1:p.Tyr1882=
NM_014363.6:c.5618_5620delinsATT MANE Select	NP_055178.3:p.Tyr1873=
NM_001278055.2:c.5177_5179delinsATT	NP_001264984.1:p.Tyr1726=