Canonical Allele Identifier: CA912980195

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23912013_23912016del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337874_23337877del , CM000675.2:g.23337874_23337877del	GRCh38
NC_000013.10:g.23912013_23912016del , CM000675.1:g.23912013_23912016del	GRCh37
NC_000013.9:g.22810013_22810016del	NCBI36
NG_012342.1:g.100828_100831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15910_2185+15913del	ENSP00000508399.1:n.2185+15910_2185+15913del
ENST00000682944.1:c.6028_6031del	ENSP00000507173.1:p.Arg2010GlufsTer12
ENST00000683210.1:c.2185+15910_2185+15913del	ENSP00000506739.1:n.2185+15910_2185+15913del
ENST00000683270.1:c.5992_5995del	ENSP00000507624.1:p.Arg1998GlufsTer12
ENST00000683367.1:c.2177-8391_2177-8388del	ENSP00000507780.1:n.2177-8391_2177-8388del
ENST00000683489.1:c.2291+3710_2291+3713del	ENSP00000508403.1:n.2291+3710_2291+3713del
ENST00000683680.1:c.2318+3710_2318+3713del	ENSP00000507223.1:n.2318+3710_2318+3713del
ENST00000684163.1:c.2204-8391_2204-8388del	ENSP00000508262.1:n.2204-8391_2204-8388del
ENST00000684196.1:n.4543-8391_4543-8388del
ENST00000684325.1:c.2185+15910_2185+15913del	ENSP00000508121.1:n.2185+15910_2185+15913del
ENST00000684385.1:c.2221-8391_2221-8388del	ENSP00000507855.1:n.2221-8391_2221-8388del
ENST00000684497.1:c.2186-15231_2186-15228del	ENSP00000507057.1:n.2186-15231_2186-15228del
ENST00000382292.9:c.6001_6004del MANE Select	ENSP00000371729.3:p.Arg2001GlufsTer12
ENST00000423156.2:c.2186-8391_2186-8388del	ENSP00000390925.2:n.2186-8391_2186-8388del
ENST00000455470.6:c.2431+3570_2431+3573del	ENSP00000406565.2:n.2431+3570_2431+3573del
ENST00000382292.7:c.6001_6004del	ENSP00000371729.3:p.Arg2001GlufsTer12
ENST00000382298.7:c.6001_6004del	ENSP00000371735.3:p.Arg2001GlufsTer12
ENST00000402364.1:c.3751_3754del	ENSP00000385844.1:p.Arg1251GlufsTer12
ENST00000423156.1:c.1058-8391_1058-8388del	ENSP00000390925.1:n.1058-8391_1058-8388del
ENST00000455470.5:c.2129+3570_2129+3573del
NM_001278055.1:c.5560_5563del	NP_001264984.1:p.Arg1854GlufsTer12
NM_014363.5:c.6001_6004del	NP_055178.3:p.Arg2001GlufsTer12
XM_005266338.1:c.6028_6031del	XP_005266395.1:p.Arg2010GlufsTer12
XM_011535038.1:c.6052_6055del	XP_011533340.1:p.Arg2018GlufsTer12
XM_011535039.1:c.6019_6022del	XP_011533341.1:p.Arg2007GlufsTer12
XM_005266338.2:c.6028_6031del	XP_005266395.1:p.Arg2010GlufsTer12
XM_011535039.2:c.6019_6022del	XP_011533341.1:p.Arg2007GlufsTer12
XM_017020539.1:c.5992_5995del	XP_016876028.1:p.Arg1998GlufsTer12
XM_024449337.1:c.6028_6031del	XP_024305105.1:p.Arg2010GlufsTer12
NM_014363.6:c.6001_6004del MANE Select	NP_055178.3:p.Arg2001GlufsTer12
NM_001278055.2:c.5560_5563del	NP_001264984.1:p.Arg1854GlufsTer12