Canonical Allele Identifier: CA6909917

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330123del , CM000675.2:g.23330123del	GRCh38
NC_000013.10:g.23904262del , CM000675.1:g.23904262del	GRCh37
NC_000013.9:g.22802262del	NCBI36
NG_012342.1:g.108587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18001del	ENSP00000508399.1:n.2186-18001del
ENST00000682944.1:c.*20del	ENSP00000507173.1:n.*20del
ENST00000683210.1:c.2185+23669del	ENSP00000506739.1:n.2185+23669del
ENST00000683270.1:c.6446-632del	ENSP00000507624.1:n.6446-632del
ENST00000683367.1:c.2177-632del	ENSP00000507780.1:n.2177-632del
ENST00000683489.1:c.2292-164del	ENSP00000508403.1:n.2292-164del
ENST00000683680.1:c.2319-164del	ENSP00000507223.1:n.2319-164del
ENST00000684163.1:c.2204-632del	ENSP00000508262.1:n.2204-632del
ENST00000684196.1:n.4543-632del
ENST00000684325.1:c.2186-8442del	ENSP00000508121.1:n.2186-8442del
ENST00000684385.1:c.2221-632del	ENSP00000507855.1:n.2221-632del
ENST00000684497.1:c.2186-7472del	ENSP00000507057.1:n.2186-7472del
ENST00000382292.9:c.*20del MANE Select	ENSP00000371729.3:n.*20del
ENST00000423156.2:c.2186-632del	ENSP00000390925.2:n.2186-632del
ENST00000455470.6:c.2432-632del	ENSP00000406565.2:n.2432-632del
ENST00000382292.7:c.*20del	ENSP00000371729.3:n.*20del
ENST00000382298.7:c.*20del	ENSP00000371735.3:n.*20del
ENST00000402364.1:c.*20del	ENSP00000385844.1:n.*20del
ENST00000423156.1:c.1058-632del	ENSP00000390925.1:n.1058-632del
ENST00000455470.5:c.2130-632del
NM_001278055.1:c.*20del	NP_001264984.1:n.*20del
NM_014363.5:c.*20del	NP_055178.3:n.*20del
XM_005266338.1:c.*20del	XP_005266395.1:n.*20del
XM_011535038.1:c.*20del	XP_011533340.1:n.*20del
XM_011535039.1:c.*20del	XP_011533341.1:n.*20del
XM_005266338.2:c.*20del	XP_005266395.1:n.*20del
XM_011535039.2:c.*20del	XP_011533341.1:n.*20del
XM_017020539.1:c.*20del	XP_016876028.1:n.*20del
XM_024449337.1:c.*20del	XP_024305105.1:n.*20del
NM_014363.6:c.*20del MANE Select	NP_055178.3:n.*20del
NM_001278055.2:c.*20del	NP_001264984.1:n.*20del