Canonical Allele Identifier: CA2078642009

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340242_23340243delinsCT , CM000675.2:g.23340242_23340243delinsCT	GRCh38
NC_000013.10:g.23914381_23914382delinsCT , CM000675.1:g.23914381_23914382delinsCT	GRCh37
NC_000013.9:g.22812381_22812382delinsCT	NCBI36
NG_012342.1:g.98460_98461delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13542_2185+13543delinsAG	ENSP00000508399.1:n.2185+13542_2185+13543delinsAG
ENST00000682944.1:c.3660_3661delinsAG	ENSP00000507173.1:p.Lys1220=
ENST00000683210.1:c.2185+13542_2185+13543delinsAG	ENSP00000506739.1:n.2185+13542_2185+13543delinsAG
ENST00000683270.1:c.3624_3625delinsAG	ENSP00000507624.1:p.Lys1208=
ENST00000683367.1:c.2177-10759_2177-10758delinsAG	ENSP00000507780.1:n.2177-10759_2177-10758delinsAG
ENST00000683489.1:c.2291+1342_2291+1343delinsAG	ENSP00000508403.1:n.2291+1342_2291+1343delinsAG
ENST00000683680.1:c.2318+1342_2318+1343delinsAG	ENSP00000507223.1:n.2318+1342_2318+1343delinsAG
ENST00000684163.1:c.2203+6568_2203+6569delinsAG	ENSP00000508262.1:n.2203+6568_2203+6569delinsAG
ENST00000684196.1:n.4543-10759_4543-10758delinsAG
ENST00000684325.1:c.2185+13542_2185+13543delinsAG	ENSP00000508121.1:n.2185+13542_2185+13543delinsAG
ENST00000684385.1:c.2220+6568_2220+6569delinsAG	ENSP00000507855.1:n.2220+6568_2220+6569delinsAG
ENST00000684497.1:c.2185+13542_2185+13543delinsAG	ENSP00000507057.1:n.2185+13542_2185+13543delinsAG
ENST00000382292.9:c.3633_3634delinsAG MANE Select	ENSP00000371729.3:p.Lys1211=
ENST00000423156.2:c.2186-10759_2186-10758delinsAG	ENSP00000390925.2:n.2186-10759_2186-10758delinsAG
ENST00000455470.6:c.2431+1202_2431+1203delinsAG	ENSP00000406565.2:n.2431+1202_2431+1203delinsAG
ENST00000382292.7:c.3633_3634delinsAG	ENSP00000371729.3:p.Lys1211=
ENST00000382298.7:c.3633_3634delinsAG	ENSP00000371735.3:p.Lys1211=
ENST00000402364.1:c.1383_1384delinsAG	ENSP00000385844.1:p.Lys461=
ENST00000423156.1:c.1058-10759_1058-10758delinsAG	ENSP00000390925.1:n.1058-10759_1058-10758delinsAG
ENST00000455470.5:c.2129+1202_2129+1203delinsAG
NM_001278055.1:c.3192_3193delinsAG	NP_001264984.1:p.Lys1064=
NM_014363.5:c.3633_3634delinsAG	NP_055178.3:p.Lys1211=
XM_005266338.1:c.3660_3661delinsAG	XP_005266395.1:p.Lys1220=
XM_011535038.1:c.3684_3685delinsAG	XP_011533340.1:p.Lys1228=
XM_011535039.1:c.3651_3652delinsAG	XP_011533341.1:p.Lys1217=
XM_005266338.2:c.3660_3661delinsAG	XP_005266395.1:p.Lys1220=
XM_011535039.2:c.3651_3652delinsAG	XP_011533341.1:p.Lys1217=
XM_017020539.1:c.3624_3625delinsAG	XP_016876028.1:p.Lys1208=
XM_024449337.1:c.3660_3661delinsAG	XP_024305105.1:p.Lys1220=
NM_014363.6:c.3633_3634delinsAG MANE Select	NP_055178.3:p.Lys1211=
NM_001278055.2:c.3192_3193delinsAG	NP_001264984.1:p.Lys1064=