Canonical Allele Identifier: CA2078630848

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339115_23339116delinsAT , CM000675.2:g.23339115_23339116delinsAT	GRCh38
NC_000013.10:g.23913254_23913255delinsAT , CM000675.1:g.23913254_23913255delinsAT	GRCh37
NC_000013.9:g.22811254_22811255delinsAT	NCBI36
NG_012342.1:g.99587_99588delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14669_2185+14670delinsAT	ENSP00000508399.1:n.2185+14669_2185+14670delinsAT
ENST00000682944.1:c.4787_4788delinsAT	ENSP00000507173.1:p.His1596=
ENST00000683210.1:c.2185+14669_2185+14670delinsAT	ENSP00000506739.1:n.2185+14669_2185+14670delinsAT
ENST00000683270.1:c.4751_4752delinsAT	ENSP00000507624.1:p.His1584=
ENST00000683367.1:c.2177-9632_2177-9631delinsAT	ENSP00000507780.1:n.2177-9632_2177-9631delinsAT
ENST00000683489.1:c.2291+2469_2291+2470delinsAT	ENSP00000508403.1:n.2291+2469_2291+2470delinsAT
ENST00000683680.1:c.2318+2469_2318+2470delinsAT	ENSP00000507223.1:n.2318+2469_2318+2470delinsAT
ENST00000684163.1:c.2203+7695_2203+7696delinsAT	ENSP00000508262.1:n.2203+7695_2203+7696delinsAT
ENST00000684196.1:n.4543-9632_4543-9631delinsAT
ENST00000684325.1:c.2185+14669_2185+14670delinsAT	ENSP00000508121.1:n.2185+14669_2185+14670delinsAT
ENST00000684385.1:c.2220+7695_2220+7696delinsAT	ENSP00000507855.1:n.2220+7695_2220+7696delinsAT
ENST00000684497.1:c.2185+14669_2185+14670delinsAT	ENSP00000507057.1:n.2185+14669_2185+14670delinsAT
ENST00000382292.9:c.4760_4761delinsAT MANE Select	ENSP00000371729.3:p.His1587=
ENST00000423156.2:c.2186-9632_2186-9631delinsAT	ENSP00000390925.2:n.2186-9632_2186-9631delinsAT
ENST00000455470.6:c.2431+2329_2431+2330delinsAT	ENSP00000406565.2:n.2431+2329_2431+2330delinsAT
ENST00000382292.7:c.4760_4761delinsAT	ENSP00000371729.3:p.His1587=
ENST00000382298.7:c.4760_4761delinsAT	ENSP00000371735.3:p.His1587=
ENST00000402364.1:c.2510_2511delinsAT	ENSP00000385844.1:p.His837=
ENST00000423156.1:c.1058-9632_1058-9631delinsAT	ENSP00000390925.1:n.1058-9632_1058-9631delinsAT
ENST00000455470.5:c.2129+2329_2129+2330delinsAT
NM_001278055.1:c.4319_4320delinsAT	NP_001264984.1:p.His1440=
NM_014363.5:c.4760_4761delinsAT	NP_055178.3:p.His1587=
XM_005266338.1:c.4787_4788delinsAT	XP_005266395.1:p.His1596=
XM_011535038.1:c.4811_4812delinsAT	XP_011533340.1:p.His1604=
XM_011535039.1:c.4778_4779delinsAT	XP_011533341.1:p.His1593=
XM_005266338.2:c.4787_4788delinsAT	XP_005266395.1:p.His1596=
XM_011535039.2:c.4778_4779delinsAT	XP_011533341.1:p.His1593=
XM_017020539.1:c.4751_4752delinsAT	XP_016876028.1:p.His1584=
XM_024449337.1:c.4787_4788delinsAT	XP_024305105.1:p.His1596=
NM_014363.6:c.4760_4761delinsAT MANE Select	NP_055178.3:p.His1587=
NM_001278055.2:c.4319_4320delinsAT	NP_001264984.1:p.His1440=