Canonical Allele Identifier: CA2078626178

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336736_23336737delinsAT , CM000675.2:g.23336736_23336737delinsAT	GRCh38
NC_000013.10:g.23910875_23910876delinsAT , CM000675.1:g.23910875_23910876delinsAT	GRCh37
NC_000013.9:g.22808875_22808876delinsAT	NCBI36
NG_012342.1:g.101966_101967delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17048_2185+17049delinsAT	ENSP00000508399.1:n.2185+17048_2185+17049delinsAT
ENST00000682944.1:c.7166_7167delinsAT	ENSP00000507173.1:p.Asn2389=
ENST00000683210.1:c.2185+17048_2185+17049delinsAT	ENSP00000506739.1:n.2185+17048_2185+17049delinsAT
ENST00000683270.1:c.6445+685_6445+686delinsAT	ENSP00000507624.1:n.6445+685_6445+686delinsAT
ENST00000683367.1:c.2177-7253_2177-7252delinsAT	ENSP00000507780.1:n.2177-7253_2177-7252delinsAT
ENST00000683489.1:c.2291+4848_2291+4849delinsAT	ENSP00000508403.1:n.2291+4848_2291+4849delinsAT
ENST00000683680.1:c.2318+4848_2318+4849delinsAT	ENSP00000507223.1:n.2318+4848_2318+4849delinsAT
ENST00000684163.1:c.2204-7253_2204-7252delinsAT	ENSP00000508262.1:n.2204-7253_2204-7252delinsAT
ENST00000684196.1:n.4543-7253_4543-7252delinsAT
ENST00000684325.1:c.2186-15063_2186-15062delinsAT	ENSP00000508121.1:n.2186-15063_2186-15062delinsAT
ENST00000684385.1:c.2221-7253_2221-7252delinsAT	ENSP00000507855.1:n.2221-7253_2221-7252delinsAT
ENST00000684497.1:c.2186-14093_2186-14092delinsAT	ENSP00000507057.1:n.2186-14093_2186-14092delinsAT
ENST00000382292.9:c.7139_7140delinsAT MANE Select	ENSP00000371729.3:p.Asn2380=
ENST00000423156.2:c.2186-7253_2186-7252delinsAT	ENSP00000390925.2:n.2186-7253_2186-7252delinsAT
ENST00000455470.6:c.2431+4708_2431+4709delinsAT	ENSP00000406565.2:n.2431+4708_2431+4709delinsAT
ENST00000382292.7:c.7139_7140delinsAT	ENSP00000371729.3:p.Asn2380=
ENST00000382298.7:c.7139_7140delinsAT	ENSP00000371735.3:p.Asn2380=
ENST00000402364.1:c.4889_4890delinsAT	ENSP00000385844.1:p.Asn1630=
ENST00000423156.1:c.1058-7253_1058-7252delinsAT	ENSP00000390925.1:n.1058-7253_1058-7252delinsAT
ENST00000455470.5:c.2129+4708_2129+4709delinsAT
NM_001278055.1:c.6698_6699delinsAT	NP_001264984.1:p.Asn2233=
NM_014363.5:c.7139_7140delinsAT	NP_055178.3:p.Asn2380=
XM_005266338.1:c.7166_7167delinsAT	XP_005266395.1:p.Asn2389=
XM_011535038.1:c.7190_7191delinsAT	XP_011533340.1:p.Asn2397=
XM_011535039.1:c.7157_7158delinsAT	XP_011533341.1:p.Asn2386=
XM_005266338.2:c.7166_7167delinsAT	XP_005266395.1:p.Asn2389=
XM_011535039.2:c.7157_7158delinsAT	XP_011533341.1:p.Asn2386=
XM_017020539.1:c.7130_7131delinsAT	XP_016876028.1:p.Asn2377=
XM_024449337.1:c.7166_7167delinsAT	XP_024305105.1:p.Asn2389=
NM_014363.6:c.7139_7140delinsAT MANE Select	NP_055178.3:p.Asn2380=
NM_001278055.2:c.6698_6699delinsAT	NP_001264984.1:p.Asn2233=