Canonical Allele Identifier: CA2575369446

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330712_23330715del , CM000675.2:g.23330712_23330715del	GRCh38
NC_000013.10:g.23904851_23904854del , CM000675.1:g.23904851_23904854del	GRCh37
NC_000013.9:g.22802851_22802854del	NCBI36
NG_012342.1:g.107992_107995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18596_2186-18593del	ENSP00000508399.1:n.2186-18596_2186-18593del
ENST00000682944.1:c.13192_13195del	ENSP00000507173.1:p.Ser4398ThrfsTer?
ENST00000683210.1:c.2185+23074_2185+23077del	ENSP00000506739.1:n.2185+23074_2185+23077del
ENST00000683270.1:c.6446-1227_6446-1224del	ENSP00000507624.1:n.6446-1227_6446-1224del
ENST00000683367.1:c.2177-1227_2177-1224del	ENSP00000507780.1:n.2177-1227_2177-1224del
ENST00000683489.1:c.2292-759_2292-756del	ENSP00000508403.1:n.2292-759_2292-756del
ENST00000683680.1:c.2319-759_2319-756del	ENSP00000507223.1:n.2319-759_2319-756del
ENST00000684163.1:c.2204-1227_2204-1224del	ENSP00000508262.1:n.2204-1227_2204-1224del
ENST00000684196.1:n.4543-1227_4543-1224del
ENST00000684325.1:c.2186-9037_2186-9034del	ENSP00000508121.1:n.2186-9037_2186-9034del
ENST00000684385.1:c.2221-1227_2221-1224del	ENSP00000507855.1:n.2221-1227_2221-1224del
ENST00000684497.1:c.2186-8067_2186-8064del	ENSP00000507057.1:n.2186-8067_2186-8064del
ENST00000382292.9:c.13165_13168del MANE Select	ENSP00000371729.3:p.Ser4389ThrfsTer?
ENST00000423156.2:c.2186-1227_2186-1224del	ENSP00000390925.2:n.2186-1227_2186-1224del
ENST00000455470.6:c.2432-1227_2432-1224del	ENSP00000406565.2:n.2432-1227_2432-1224del
ENST00000382292.7:c.13165_13168del	ENSP00000371729.3:p.Ser4389ThrfsTer?
ENST00000382298.7:c.13165_13168del	ENSP00000371735.3:p.Ser4389ThrfsTer?
ENST00000402364.1:c.10915_10918del	ENSP00000385844.1:p.Ser3639ThrfsTer?
ENST00000423156.1:c.1058-1227_1058-1224del	ENSP00000390925.1:n.1058-1227_1058-1224del
ENST00000455470.5:c.2130-1227_2130-1224del
NM_001278055.1:c.12724_12727del	NP_001264984.1:p.Ser4242ThrfsTer?
NM_014363.5:c.13165_13168del	NP_055178.3:p.Ser4389ThrfsTer?
XM_005266338.1:c.13192_13195del	XP_005266395.1:p.Ser4398ThrfsTer?
XM_011535038.1:c.13216_13219del	XP_011533340.1:p.Ser4406ThrfsTer?
XM_011535039.1:c.13183_13186del	XP_011533341.1:p.Ser4395ThrfsTer?
XM_005266338.2:c.13192_13195del	XP_005266395.1:p.Ser4398ThrfsTer?
XM_011535039.2:c.13183_13186del	XP_011533341.1:p.Ser4395ThrfsTer?
XM_017020539.1:c.13156_13159del	XP_016876028.1:p.Ser4386ThrfsTer?
XM_024449337.1:c.13192_13195del	XP_024305105.1:p.Ser4398ThrfsTer?
NM_014363.6:c.13165_13168del MANE Select	NP_055178.3:p.Ser4389ThrfsTer?
NM_001278055.2:c.12724_12727del	NP_001264984.1:p.Ser4242ThrfsTer?