Canonical Allele Identifier: CA2580614731

Gene: SACS

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340718_23340719del , CM000675.2:g.23340718_23340719del	GRCh38
NC_000013.10:g.23914857_23914858del , CM000675.1:g.23914857_23914858del	GRCh37
NC_000013.9:g.22812857_22812858del	NCBI36
NG_012342.1:g.97986_97987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13068_2185+13069del	ENSP00000508399.1:n.2185+13068_2185+13069del
ENST00000682944.1:c.3186_3187del	ENSP00000507173.1:p.Phe1063Ter
ENST00000683210.1:c.2185+13068_2185+13069del	ENSP00000506739.1:n.2185+13068_2185+13069del
ENST00000683270.1:c.3150_3151del	ENSP00000507624.1:p.Phe1051Ter
ENST00000683367.1:c.2177-11233_2177-11232del	ENSP00000507780.1:n.2177-11233_2177-11232del
ENST00000683489.1:c.2291+868_2291+869del	ENSP00000508403.1:n.2291+868_2291+869del
ENST00000683680.1:c.2318+868_2318+869del	ENSP00000507223.1:n.2318+868_2318+869del
ENST00000684163.1:c.2203+6094_2203+6095del	ENSP00000508262.1:n.2203+6094_2203+6095del
ENST00000684196.1:n.4543-11233_4543-11232del
ENST00000684325.1:c.2185+13068_2185+13069del	ENSP00000508121.1:n.2185+13068_2185+13069del
ENST00000684385.1:c.2220+6094_2220+6095del	ENSP00000507855.1:n.2220+6094_2220+6095del
ENST00000684497.1:c.2185+13068_2185+13069del	ENSP00000507057.1:n.2185+13068_2185+13069del
ENST00000382292.9:c.3159_3160del MANE Select	ENSP00000371729.3:p.Phe1054Ter
ENST00000423156.2:c.2186-11233_2186-11232del	ENSP00000390925.2:n.2186-11233_2186-11232del
ENST00000455470.6:c.2431+728_2431+729del	ENSP00000406565.2:n.2431+728_2431+729del
ENST00000382292.7:c.3159_3160del	ENSP00000371729.3:p.Phe1054Ter
ENST00000382298.7:c.3159_3160del	ENSP00000371735.3:p.Phe1054Ter
ENST00000402364.1:c.909_910del	ENSP00000385844.1:p.Phe304Ter
ENST00000423156.1:c.1058-11233_1058-11232del	ENSP00000390925.1:n.1058-11233_1058-11232del
ENST00000455470.5:c.2129+728_2129+729del
NM_001278055.1:c.2718_2719del	NP_001264984.1:p.Phe907Ter
NM_014363.5:c.3159_3160del	NP_055178.3:p.Phe1054Ter
XM_005266338.1:c.3186_3187del	XP_005266395.1:p.Phe1063Ter
XM_011535038.1:c.3210_3211del	XP_011533340.1:p.Phe1071Ter
XM_011535039.1:c.3177_3178del	XP_011533341.1:p.Phe1060Ter
XM_005266338.2:c.3186_3187del	XP_005266395.1:p.Phe1063Ter
XM_011535039.2:c.3177_3178del	XP_011533341.1:p.Phe1060Ter
XM_017020539.1:c.3150_3151del	XP_016876028.1:p.Phe1051Ter
XM_024449337.1:c.3186_3187del	XP_024305105.1:p.Phe1063Ter
NM_014363.6:c.3159_3160del MANE Select	NP_055178.3:p.Phe1054Ter
NM_001278055.2:c.2718_2719del	NP_001264984.1:p.Phe907Ter