Canonical Allele Identifier: CA2575369590

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355166_23355171del , CM000675.2:g.23355166_23355171del	GRCh38
NC_000013.10:g.23929305_23929310del , CM000675.1:g.23929305_23929310del	GRCh37
NC_000013.9:g.22827305_22827310del	NCBI36
NG_012342.1:g.83534_83539del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.1443_1448del	ENSP00000508399.1:p.Glu481_Leu482del
ENST00000682944.1:c.1443_1448del	ENSP00000507173.1:p.Glu481_Leu482del
ENST00000683154.1:n.1581_1586del
ENST00000683210.1:c.1443_1448del	ENSP00000506739.1:p.Glu481_Leu482del
ENST00000683270.1:c.1434_1439del	ENSP00000507624.1:p.Glu478_Leu479del
ENST00000683367.1:c.1434_1439del	ENSP00000507780.1:p.Glu478_Leu479del
ENST00000683489.1:c.1443_1448del	ENSP00000508403.1:p.Glu481_Leu482del
ENST00000683680.1:c.1443_1448del	ENSP00000507223.1:p.Glu481_Leu482del
ENST00000684163.1:c.1434_1439del	ENSP00000508262.1:p.Glu478_Leu479del
ENST00000684196.1:n.3800_3805del
ENST00000684325.1:c.1443_1448del	ENSP00000508121.1:p.Glu481_Leu482del
ENST00000684385.1:c.1443_1448del	ENSP00000507855.1:p.Glu481_Leu482del
ENST00000684497.1:c.1443_1448del	ENSP00000507057.1:p.Glu481_Leu482del
ENST00000382292.9:c.1443_1448del MANE Select	ENSP00000371729.3:p.Glu481_Leu482del
ENST00000423156.2:c.1443_1448del	ENSP00000390925.2:p.Glu481_Leu482del
ENST00000455470.6:c.1443_1448del	ENSP00000406565.2:p.Glu481_Leu482del
ENST00000382292.7:c.1443_1448del	ENSP00000371729.3:p.Glu481_Leu482del
ENST00000382298.7:c.1443_1448del	ENSP00000371735.3:p.Glu481_Leu482del
ENST00000402364.1:c.-808_-803del	ENSP00000385844.1:n.-808_-803del
ENST00000423156.1:c.315_320del	ENSP00000390925.1:p.Glu105_Leu106del
ENST00000455470.5:c.1141_1146del
NM_001278055.1:c.1002_1007del	NP_001264984.1:p.Glu334_Leu335del
NM_014363.5:c.1443_1448del	NP_055178.3:p.Glu481_Leu482del
XM_005266338.1:c.1443_1448del	XP_005266395.1:p.Glu481_Leu482del
XM_011535038.1:c.1467_1472del	XP_011533340.1:p.Glu489_Leu490del
XM_011535039.1:c.1434_1439del	XP_011533341.1:p.Glu478_Leu479del
XM_005266338.2:c.1443_1448del	XP_005266395.1:p.Glu481_Leu482del
XM_011535039.2:c.1434_1439del	XP_011533341.1:p.Glu478_Leu479del
XM_017020539.1:c.1434_1439del	XP_016876028.1:p.Glu478_Leu479del
XM_024449337.1:c.1443_1448del	XP_024305105.1:p.Glu481_Leu482del
NM_014363.6:c.1443_1448del MANE Select	NP_055178.3:p.Glu481_Leu482del
NM_001278055.2:c.1002_1007del	NP_001264984.1:p.Glu334_Leu335del