Canonical Allele Identifier: CA2078629715

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338611_23338613delinsCTT , CM000675.2:g.23338611_23338613delinsCTT	GRCh38
NC_000013.10:g.23912750_23912752delinsCTT , CM000675.1:g.23912750_23912752delinsCTT	GRCh37
NC_000013.9:g.22810750_22810752delinsCTT	NCBI36
NG_012342.1:g.100090_100092delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15172_2185+15174delinsAAG	ENSP00000508399.1:n.2185+15172_2185+15174delinsAAG
ENST00000682944.1:c.5290_5292delinsAAG	ENSP00000507173.1:p.Lys1764=
ENST00000683210.1:c.2185+15172_2185+15174delinsAAG	ENSP00000506739.1:n.2185+15172_2185+15174delinsAAG
ENST00000683270.1:c.5254_5256delinsAAG	ENSP00000507624.1:p.Lys1752=
ENST00000683367.1:c.2177-9129_2177-9127delinsAAG	ENSP00000507780.1:n.2177-9129_2177-9127delinsAAG
ENST00000683489.1:c.2291+2972_2291+2974delinsAAG	ENSP00000508403.1:n.2291+2972_2291+2974delinsAAG
ENST00000683680.1:c.2318+2972_2318+2974delinsAAG	ENSP00000507223.1:n.2318+2972_2318+2974delinsAAG
ENST00000684163.1:c.2203+8198_2203+8200delinsAAG	ENSP00000508262.1:n.2203+8198_2203+8200delinsAAG
ENST00000684196.1:n.4543-9129_4543-9127delinsAAG
ENST00000684325.1:c.2185+15172_2185+15174delinsAAG	ENSP00000508121.1:n.2185+15172_2185+15174delinsAAG
ENST00000684385.1:c.2220+8198_2220+8200delinsAAG	ENSP00000507855.1:n.2220+8198_2220+8200delinsAAG
ENST00000684497.1:c.2185+15172_2185+15174delinsAAG	ENSP00000507057.1:n.2185+15172_2185+15174delinsAAG
ENST00000382292.9:c.5263_5265delinsAAG MANE Select	ENSP00000371729.3:p.Lys1755=
ENST00000423156.2:c.2186-9129_2186-9127delinsAAG	ENSP00000390925.2:n.2186-9129_2186-9127delinsAAG
ENST00000455470.6:c.2431+2832_2431+2834delinsAAG	ENSP00000406565.2:n.2431+2832_2431+2834delinsAAG
ENST00000382292.7:c.5263_5265delinsAAG	ENSP00000371729.3:p.Lys1755=
ENST00000382298.7:c.5263_5265delinsAAG	ENSP00000371735.3:p.Lys1755=
ENST00000402364.1:c.3013_3015delinsAAG	ENSP00000385844.1:p.Lys1005=
ENST00000423156.1:c.1058-9129_1058-9127delinsAAG	ENSP00000390925.1:n.1058-9129_1058-9127delinsAAG
ENST00000455470.5:c.2129+2832_2129+2834delinsAAG
NM_001278055.1:c.4822_4824delinsAAG	NP_001264984.1:p.Lys1608=
NM_014363.5:c.5263_5265delinsAAG	NP_055178.3:p.Lys1755=
XM_005266338.1:c.5290_5292delinsAAG	XP_005266395.1:p.Lys1764=
XM_011535038.1:c.5314_5316delinsAAG	XP_011533340.1:p.Lys1772=
XM_011535039.1:c.5281_5283delinsAAG	XP_011533341.1:p.Lys1761=
XM_005266338.2:c.5290_5292delinsAAG	XP_005266395.1:p.Lys1764=
XM_011535039.2:c.5281_5283delinsAAG	XP_011533341.1:p.Lys1761=
XM_017020539.1:c.5254_5256delinsAAG	XP_016876028.1:p.Lys1752=
XM_024449337.1:c.5290_5292delinsAAG	XP_024305105.1:p.Lys1764=
NM_014363.6:c.5263_5265delinsAAG MANE Select	NP_055178.3:p.Lys1755=
NM_001278055.2:c.4822_4824delinsAAG	NP_001264984.1:p.Lys1608=