Canonical Allele Identifier: CA2078633082

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333365_23333368delinsAATC , CM000675.2:g.23333365_23333368delinsAATC	GRCh38
NC_000013.10:g.23907504_23907507delinsAATC , CM000675.1:g.23907504_23907507delinsAATC	GRCh37
NC_000013.9:g.22805504_22805507delinsAATC	NCBI36
NG_012342.1:g.105335_105338delinsGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20417_2185+20420delinsGATT	ENSP00000508399.1:n.2185+20417_2185+20420delinsGATT
ENST00000682944.1:c.10535_10538delinsGATT	ENSP00000507173.1:p.Arg3512=
ENST00000683210.1:c.2185+20417_2185+20420delinsGATT	ENSP00000506739.1:n.2185+20417_2185+20420delinsGATT
ENST00000683270.1:c.6446-3884_6446-3881delinsGATT	ENSP00000507624.1:n.6446-3884_6446-3881delinsGATT
ENST00000683367.1:c.2177-3884_2177-3881delinsGATT	ENSP00000507780.1:n.2177-3884_2177-3881delinsGATT
ENST00000683489.1:c.2292-3416_2292-3413delinsGATT	ENSP00000508403.1:n.2292-3416_2292-3413delinsGATT
ENST00000683680.1:c.2319-3416_2319-3413delinsGATT	ENSP00000507223.1:n.2319-3416_2319-3413delinsGATT
ENST00000684163.1:c.2204-3884_2204-3881delinsGATT	ENSP00000508262.1:n.2204-3884_2204-3881delinsGATT
ENST00000684196.1:n.4543-3884_4543-3881delinsGATT
ENST00000684325.1:c.2186-11694_2186-11691delinsGATT	ENSP00000508121.1:n.2186-11694_2186-11691delinsGATT
ENST00000684385.1:c.2221-3884_2221-3881delinsGATT	ENSP00000507855.1:n.2221-3884_2221-3881delinsGATT
ENST00000684497.1:c.2186-10724_2186-10721delinsGATT	ENSP00000507057.1:n.2186-10724_2186-10721delinsGATT
ENST00000382292.9:c.10508_10511delinsGATT MANE Select	ENSP00000371729.3:p.Arg3503=
ENST00000423156.2:c.2186-3884_2186-3881delinsGATT	ENSP00000390925.2:n.2186-3884_2186-3881delinsGATT
ENST00000455470.6:c.2432-3884_2432-3881delinsGATT	ENSP00000406565.2:n.2432-3884_2432-3881delinsGATT
ENST00000382292.7:c.10508_10511delinsGATT	ENSP00000371729.3:p.Arg3503=
ENST00000382298.7:c.10508_10511delinsGATT	ENSP00000371735.3:p.Arg3503=
ENST00000402364.1:c.8258_8261delinsGATT	ENSP00000385844.1:p.Arg2753=
ENST00000423156.1:c.1058-3884_1058-3881delinsGATT	ENSP00000390925.1:n.1058-3884_1058-3881delinsGATT
ENST00000455470.5:c.2130-3884_2130-3881delinsGATT
NM_001278055.1:c.10067_10070delinsGATT	NP_001264984.1:p.Arg3356=
NM_014363.5:c.10508_10511delinsGATT	NP_055178.3:p.Arg3503=
XM_005266338.1:c.10535_10538delinsGATT	XP_005266395.1:p.Arg3512=
XM_011535038.1:c.10559_10562delinsGATT	XP_011533340.1:p.Arg3520=
XM_011535039.1:c.10526_10529delinsGATT	XP_011533341.1:p.Arg3509=
XM_005266338.2:c.10535_10538delinsGATT	XP_005266395.1:p.Arg3512=
XM_011535039.2:c.10526_10529delinsGATT	XP_011533341.1:p.Arg3509=
XM_017020539.1:c.10499_10502delinsGATT	XP_016876028.1:p.Arg3500=
XM_024449337.1:c.10535_10538delinsGATT	XP_024305105.1:p.Arg3512=
NM_014363.6:c.10508_10511delinsGATT MANE Select	NP_055178.3:p.Arg3503=
NM_001278055.2:c.10067_10070delinsGATT	NP_001264984.1:p.Arg3356=