Canonical Allele Identifier: CA912980185

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23907504_23907507del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333365_23333368del , CM000675.2:g.23333365_23333368del	GRCh38
NC_000013.10:g.23907504_23907507del , CM000675.1:g.23907504_23907507del	GRCh37
NC_000013.9:g.22805504_22805507del	NCBI36
NG_012342.1:g.105335_105338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20417_2185+20420del	ENSP00000508399.1:n.2185+20417_2185+20420del
ENST00000682944.1:c.10535_10538del	ENSP00000507173.1:p.Arg3512AsnfsTer22
ENST00000683210.1:c.2185+20417_2185+20420del	ENSP00000506739.1:n.2185+20417_2185+20420del
ENST00000683270.1:c.6446-3884_6446-3881del	ENSP00000507624.1:n.6446-3884_6446-3881del
ENST00000683367.1:c.2177-3884_2177-3881del	ENSP00000507780.1:n.2177-3884_2177-3881del
ENST00000683489.1:c.2292-3416_2292-3413del	ENSP00000508403.1:n.2292-3416_2292-3413del
ENST00000683680.1:c.2319-3416_2319-3413del	ENSP00000507223.1:n.2319-3416_2319-3413del
ENST00000684163.1:c.2204-3884_2204-3881del	ENSP00000508262.1:n.2204-3884_2204-3881del
ENST00000684196.1:n.4543-3884_4543-3881del
ENST00000684325.1:c.2186-11694_2186-11691del	ENSP00000508121.1:n.2186-11694_2186-11691del
ENST00000684385.1:c.2221-3884_2221-3881del	ENSP00000507855.1:n.2221-3884_2221-3881del
ENST00000684497.1:c.2186-10724_2186-10721del	ENSP00000507057.1:n.2186-10724_2186-10721del
ENST00000382292.9:c.10508_10511del MANE Select	ENSP00000371729.3:p.Arg3503AsnfsTer22
ENST00000423156.2:c.2186-3884_2186-3881del	ENSP00000390925.2:n.2186-3884_2186-3881del
ENST00000455470.6:c.2432-3884_2432-3881del	ENSP00000406565.2:n.2432-3884_2432-3881del
ENST00000382292.7:c.10508_10511del	ENSP00000371729.3:p.Arg3503AsnfsTer22
ENST00000382298.7:c.10508_10511del	ENSP00000371735.3:p.Arg3503AsnfsTer22
ENST00000402364.1:c.8258_8261del	ENSP00000385844.1:p.Arg2753AsnfsTer22
ENST00000423156.1:c.1058-3884_1058-3881del	ENSP00000390925.1:n.1058-3884_1058-3881del
ENST00000455470.5:c.2130-3884_2130-3881del
NM_001278055.1:c.10067_10070del	NP_001264984.1:p.Arg3356AsnfsTer22
NM_014363.5:c.10508_10511del	NP_055178.3:p.Arg3503AsnfsTer22
XM_005266338.1:c.10535_10538del	XP_005266395.1:p.Arg3512AsnfsTer22
XM_011535038.1:c.10559_10562del	XP_011533340.1:p.Arg3520AsnfsTer22
XM_011535039.1:c.10526_10529del	XP_011533341.1:p.Arg3509AsnfsTer22
XM_005266338.2:c.10535_10538del	XP_005266395.1:p.Arg3512AsnfsTer22
XM_011535039.2:c.10526_10529del	XP_011533341.1:p.Arg3509AsnfsTer22
XM_017020539.1:c.10499_10502del	XP_016876028.1:p.Arg3500AsnfsTer22
XM_024449337.1:c.10535_10538del	XP_024305105.1:p.Arg3512AsnfsTer22
NM_014363.6:c.10508_10511del MANE Select	NP_055178.3:p.Arg3503AsnfsTer22
NM_001278055.2:c.10067_10070del	NP_001264984.1:p.Arg3356AsnfsTer22