Canonical Allele Identifier: CA2078641221

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339836_23339837delinsAG , CM000675.2:g.23339836_23339837delinsAG	GRCh38
NC_000013.10:g.23913975_23913976delinsAG , CM000675.1:g.23913975_23913976delinsAG	GRCh37
NC_000013.9:g.22811975_22811976delinsAG	NCBI36
NG_012342.1:g.98866_98867delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13948_2185+13949delinsCT	ENSP00000508399.1:n.2185+13948_2185+13949delinsCT
ENST00000682944.1:c.4066_4067delinsCT	ENSP00000507173.1:p.Leu1356=
ENST00000683210.1:c.2185+13948_2185+13949delinsCT	ENSP00000506739.1:n.2185+13948_2185+13949delinsCT
ENST00000683270.1:c.4030_4031delinsCT	ENSP00000507624.1:p.Leu1344=
ENST00000683367.1:c.2177-10353_2177-10352delinsCT	ENSP00000507780.1:n.2177-10353_2177-10352delinsCT
ENST00000683489.1:c.2291+1748_2291+1749delinsCT	ENSP00000508403.1:n.2291+1748_2291+1749delinsCT
ENST00000683680.1:c.2318+1748_2318+1749delinsCT	ENSP00000507223.1:n.2318+1748_2318+1749delinsCT
ENST00000684163.1:c.2203+6974_2203+6975delinsCT	ENSP00000508262.1:n.2203+6974_2203+6975delinsCT
ENST00000684196.1:n.4543-10353_4543-10352delinsCT
ENST00000684325.1:c.2185+13948_2185+13949delinsCT	ENSP00000508121.1:n.2185+13948_2185+13949delinsCT
ENST00000684385.1:c.2220+6974_2220+6975delinsCT	ENSP00000507855.1:n.2220+6974_2220+6975delinsCT
ENST00000684497.1:c.2185+13948_2185+13949delinsCT	ENSP00000507057.1:n.2185+13948_2185+13949delinsCT
ENST00000382292.9:c.4039_4040delinsCT MANE Select	ENSP00000371729.3:p.Leu1347=
ENST00000423156.2:c.2186-10353_2186-10352delinsCT	ENSP00000390925.2:n.2186-10353_2186-10352delinsCT
ENST00000455470.6:c.2431+1608_2431+1609delinsCT	ENSP00000406565.2:n.2431+1608_2431+1609delinsCT
ENST00000382292.7:c.4039_4040delinsCT	ENSP00000371729.3:p.Leu1347=
ENST00000382298.7:c.4039_4040delinsCT	ENSP00000371735.3:p.Leu1347=
ENST00000402364.1:c.1789_1790delinsCT	ENSP00000385844.1:p.Leu597=
ENST00000423156.1:c.1058-10353_1058-10352delinsCT	ENSP00000390925.1:n.1058-10353_1058-10352delinsCT
ENST00000455470.5:c.2129+1608_2129+1609delinsCT
NM_001278055.1:c.3598_3599delinsCT	NP_001264984.1:p.Leu1200=
NM_014363.5:c.4039_4040delinsCT	NP_055178.3:p.Leu1347=
XM_005266338.1:c.4066_4067delinsCT	XP_005266395.1:p.Leu1356=
XM_011535038.1:c.4090_4091delinsCT	XP_011533340.1:p.Leu1364=
XM_011535039.1:c.4057_4058delinsCT	XP_011533341.1:p.Leu1353=
XM_005266338.2:c.4066_4067delinsCT	XP_005266395.1:p.Leu1356=
XM_011535039.2:c.4057_4058delinsCT	XP_011533341.1:p.Leu1353=
XM_017020539.1:c.4030_4031delinsCT	XP_016876028.1:p.Leu1344=
XM_024449337.1:c.4066_4067delinsCT	XP_024305105.1:p.Leu1356=
NM_014363.6:c.4039_4040delinsCT MANE Select	NP_055178.3:p.Leu1347=
NM_001278055.2:c.3598_3599delinsCT	NP_001264984.1:p.Leu1200=