Canonical Allele Identifier: CA2798500352

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335020_23335021del , CM000675.2:g.23335020_23335021del	GRCh38
NC_000013.10:g.23909159_23909160del , CM000675.1:g.23909159_23909160del	GRCh37
NC_000013.9:g.22807159_22807160del	NCBI36
NG_012342.1:g.103682_103683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18764_2185+18765del	ENSP00000508399.1:n.2185+18764_2185+18765del
ENST00000682944.1:c.8882_8883del	ENSP00000507173.1:p.Val2961GlufsTer14
ENST00000683210.1:c.2185+18764_2185+18765del	ENSP00000506739.1:n.2185+18764_2185+18765del
ENST00000683270.1:c.6445+2401_6445+2402del	ENSP00000507624.1:n.6445+2401_6445+2402del
ENST00000683367.1:c.2177-5537_2177-5536del	ENSP00000507780.1:n.2177-5537_2177-5536del
ENST00000683489.1:c.2292-5069_2292-5068del	ENSP00000508403.1:n.2292-5069_2292-5068del
ENST00000683680.1:c.2319-5069_2319-5068del	ENSP00000507223.1:n.2319-5069_2319-5068del
ENST00000684163.1:c.2204-5537_2204-5536del	ENSP00000508262.1:n.2204-5537_2204-5536del
ENST00000684196.1:n.4543-5537_4543-5536del
ENST00000684325.1:c.2186-13347_2186-13346del	ENSP00000508121.1:n.2186-13347_2186-13346del
ENST00000684385.1:c.2221-5537_2221-5536del	ENSP00000507855.1:n.2221-5537_2221-5536del
ENST00000684497.1:c.2186-12377_2186-12376del	ENSP00000507057.1:n.2186-12377_2186-12376del
ENST00000382292.9:c.8855_8856del MANE Select	ENSP00000371729.3:p.Val2952GlufsTer14
ENST00000423156.2:c.2186-5537_2186-5536del	ENSP00000390925.2:n.2186-5537_2186-5536del
ENST00000455470.6:c.2432-5537_2432-5536del	ENSP00000406565.2:n.2432-5537_2432-5536del
ENST00000382292.7:c.8855_8856del	ENSP00000371729.3:p.Val2952GlufsTer14
ENST00000382298.7:c.8855_8856del	ENSP00000371735.3:p.Val2952GlufsTer14
ENST00000402364.1:c.6605_6606del	ENSP00000385844.1:p.Val2202GlufsTer14
ENST00000423156.1:c.1058-5537_1058-5536del	ENSP00000390925.1:n.1058-5537_1058-5536del
ENST00000455470.5:c.2130-5537_2130-5536del
NM_001278055.1:c.8414_8415del	NP_001264984.1:p.Val2805GlufsTer14
NM_014363.5:c.8855_8856del	NP_055178.3:p.Val2952GlufsTer14
XM_005266338.1:c.8882_8883del	XP_005266395.1:p.Val2961GlufsTer14
XM_011535038.1:c.8906_8907del	XP_011533340.1:p.Val2969GlufsTer14
XM_011535039.1:c.8873_8874del	XP_011533341.1:p.Val2958GlufsTer14
XM_005266338.2:c.8882_8883del	XP_005266395.1:p.Val2961GlufsTer14
XM_011535039.2:c.8873_8874del	XP_011533341.1:p.Val2958GlufsTer14
XM_017020539.1:c.8846_8847del	XP_016876028.1:p.Val2949GlufsTer14
XM_024449337.1:c.8882_8883del	XP_024305105.1:p.Val2961GlufsTer14
NM_014363.6:c.8855_8856del MANE Select	NP_055178.3:p.Val2952GlufsTer14
NM_001278055.2:c.8414_8415del	NP_001264984.1:p.Val2805GlufsTer14