Canonical Allele Identifier: CA2078656292

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23374843_23374844delinsTA , CM000675.2:g.23374843_23374844delinsTA	GRCh38
NC_000013.10:g.23948982_23948983delinsTA , CM000675.1:g.23948982_23948983delinsTA	GRCh37
NC_000013.9:g.22846982_22846983delinsTA	NCBI36
NG_012342.1:g.63859_63860delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682244.1:n.744+275_744+276delinsTA
ENST00000682547.1:c.208+275_208+276delinsTA	ENSP00000507735.1:n.208+275_208+276delinsTA
ENST00000682775.1:c.171+275_171+276delinsTA	ENSP00000508399.1:n.171+275_171+276delinsTA
ENST00000682944.1:c.171+275_171+276delinsTA	ENSP00000507173.1:n.171+275_171+276delinsTA
ENST00000683154.1:n.309+275_309+276delinsTA
ENST00000683210.1:c.171+275_171+276delinsTA	ENSP00000506739.1:n.171+275_171+276delinsTA
ENST00000683270.1:c.162+275_162+276delinsTA	ENSP00000507624.1:n.162+275_162+276delinsTA
ENST00000683367.1:c.162+275_162+276delinsTA	ENSP00000507780.1:n.162+275_162+276delinsTA
ENST00000683489.1:c.171+275_171+276delinsTA	ENSP00000508403.1:n.171+275_171+276delinsTA
ENST00000683680.1:c.171+275_171+276delinsTA	ENSP00000507223.1:n.171+275_171+276delinsTA
ENST00000684053.1:n.288+275_288+276delinsTA
ENST00000684163.1:c.162+275_162+276delinsTA	ENSP00000508262.1:n.162+275_162+276delinsTA
ENST00000684325.1:c.171+275_171+276delinsTA	ENSP00000508121.1:n.171+275_171+276delinsTA
ENST00000684385.1:c.171+275_171+276delinsTA	ENSP00000507855.1:n.171+275_171+276delinsTA
ENST00000684497.1:c.171+275_171+276delinsTA	ENSP00000507057.1:n.171+275_171+276delinsTA
ENST00000382292.9:c.171+275_171+276delinsTA MANE Select	ENSP00000371729.3:n.171+275_171+276delinsTA
ENST00000423156.2:c.171+275_171+276delinsTA	ENSP00000390925.2:n.171+275_171+276delinsTA
ENST00000455470.6:c.171+275_171+276delinsTA	ENSP00000406565.2:n.171+275_171+276delinsTA
ENST00000382292.7:c.171+275_171+276delinsTA	ENSP00000371729.3:n.171+275_171+276delinsTA
ENST00000382298.7:c.171+275_171+276delinsTA	ENSP00000371735.3:n.171+275_171+276delinsTA
ENST00000402364.1:c.-1992+275_-1992+276delinsTA	ENSP00000385844.1:n.-1992+275_-1992+276delinsTA
NM_001278055.1:c.-183+275_-183+276delinsTA	NP_001264984.1:n.-183+275_-183+276delinsTA
NM_014363.5:c.171+275_171+276delinsTA	NP_055178.3:n.171+275_171+276delinsTA
XM_005266338.1:c.171+275_171+276delinsTA	XP_005266395.1:n.171+275_171+276delinsTA
XM_011535038.1:c.195+275_195+276delinsTA	XP_011533340.1:n.195+275_195+276delinsTA
XM_011535039.1:c.162+275_162+276delinsTA	XP_011533341.1:n.162+275_162+276delinsTA
XM_005266338.2:c.171+275_171+276delinsTA	XP_005266395.1:n.171+275_171+276delinsTA
XM_011535039.2:c.162+275_162+276delinsTA	XP_011533341.1:n.162+275_162+276delinsTA
XM_017020539.1:c.162+275_162+276delinsTA	XP_016876028.1:n.162+275_162+276delinsTA
XM_024449337.1:c.171+275_171+276delinsTA	XP_024305105.1:n.171+275_171+276delinsTA
NM_014363.6:c.171+275_171+276delinsTA MANE Select	NP_055178.3:n.171+275_171+276delinsTA
NM_001278055.2:c.-183+275_-183+276delinsTA	NP_001264984.1:n.-183+275_-183+276delinsTA