Canonical Allele Identifier: CA2078625677

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336549_23336552delinsATTC , CM000675.2:g.23336549_23336552delinsATTC	GRCh38
NC_000013.10:g.23910688_23910691delinsATTC , CM000675.1:g.23910688_23910691delinsATTC	GRCh37
NC_000013.9:g.22808688_22808691delinsATTC	NCBI36
NG_012342.1:g.102151_102154delinsGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17233_2185+17236delinsGAAT	ENSP00000508399.1:n.2185+17233_2185+17236delinsGAAT
ENST00000682944.1:c.7351_7354delinsGAAT	ENSP00000507173.1:p.Glu2451=
ENST00000683210.1:c.2185+17233_2185+17236delinsGAAT	ENSP00000506739.1:n.2185+17233_2185+17236delinsGAAT
ENST00000683270.1:c.6445+870_6445+873delinsGAAT	ENSP00000507624.1:n.6445+870_6445+873delinsGAAT
ENST00000683367.1:c.2177-7068_2177-7065delinsGAAT	ENSP00000507780.1:n.2177-7068_2177-7065delinsGAAT
ENST00000683489.1:c.2291+5033_2291+5036delinsGAAT	ENSP00000508403.1:n.2291+5033_2291+5036delinsGAAT
ENST00000683680.1:c.2318+5033_2318+5036delinsGAAT	ENSP00000507223.1:n.2318+5033_2318+5036delinsGAAT
ENST00000684163.1:c.2204-7068_2204-7065delinsGAAT	ENSP00000508262.1:n.2204-7068_2204-7065delinsGAAT
ENST00000684196.1:n.4543-7068_4543-7065delinsGAAT
ENST00000684325.1:c.2186-14878_2186-14875delinsGAAT	ENSP00000508121.1:n.2186-14878_2186-14875delinsGAAT
ENST00000684385.1:c.2221-7068_2221-7065delinsGAAT	ENSP00000507855.1:n.2221-7068_2221-7065delinsGAAT
ENST00000684497.1:c.2186-13908_2186-13905delinsGAAT	ENSP00000507057.1:n.2186-13908_2186-13905delinsGAAT
ENST00000382292.9:c.7324_7327delinsGAAT MANE Select	ENSP00000371729.3:p.Glu2442=
ENST00000423156.2:c.2186-7068_2186-7065delinsGAAT	ENSP00000390925.2:n.2186-7068_2186-7065delinsGAAT
ENST00000455470.6:c.2431+4893_2431+4896delinsGAAT	ENSP00000406565.2:n.2431+4893_2431+4896delinsGAAT
ENST00000382292.7:c.7324_7327delinsGAAT	ENSP00000371729.3:p.Glu2442=
ENST00000382298.7:c.7324_7327delinsGAAT	ENSP00000371735.3:p.Glu2442=
ENST00000402364.1:c.5074_5077delinsGAAT	ENSP00000385844.1:p.Glu1692=
ENST00000423156.1:c.1058-7068_1058-7065delinsGAAT	ENSP00000390925.1:n.1058-7068_1058-7065delinsGAAT
ENST00000455470.5:c.2129+4893_2129+4896delinsGAAT
NM_001278055.1:c.6883_6886delinsGAAT	NP_001264984.1:p.Glu2295=
NM_014363.5:c.7324_7327delinsGAAT	NP_055178.3:p.Glu2442=
XM_005266338.1:c.7351_7354delinsGAAT	XP_005266395.1:p.Glu2451=
XM_011535038.1:c.7375_7378delinsGAAT	XP_011533340.1:p.Glu2459=
XM_011535039.1:c.7342_7345delinsGAAT	XP_011533341.1:p.Glu2448=
XM_005266338.2:c.7351_7354delinsGAAT	XP_005266395.1:p.Glu2451=
XM_011535039.2:c.7342_7345delinsGAAT	XP_011533341.1:p.Glu2448=
XM_017020539.1:c.7315_7318delinsGAAT	XP_016876028.1:p.Glu2439=
XM_024449337.1:c.7351_7354delinsGAAT	XP_024305105.1:p.Glu2451=
NM_014363.6:c.7324_7327delinsGAAT MANE Select	NP_055178.3:p.Glu2442=
NM_001278055.2:c.6883_6886delinsGAAT	NP_001264984.1:p.Glu2295=