Canonical Allele Identifier: CA2798500432

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330666_23330668del , CM000675.2:g.23330666_23330668del	GRCh38
NC_000013.10:g.23904805_23904807del , CM000675.1:g.23904805_23904807del	GRCh37
NC_000013.9:g.22802805_22802807del	NCBI36
NG_012342.1:g.108038_108040del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18550_2186-18548del	ENSP00000508399.1:n.2186-18550_2186-18548del
ENST00000682944.1:c.13238_13240del	ENSP00000507173.1:p.Glu4413del
ENST00000683210.1:c.2185+23120_2185+23122del	ENSP00000506739.1:n.2185+23120_2185+23122del
ENST00000683270.1:c.6446-1181_6446-1179del	ENSP00000507624.1:n.6446-1181_6446-1179del
ENST00000683367.1:c.2177-1181_2177-1179del	ENSP00000507780.1:n.2177-1181_2177-1179del
ENST00000683489.1:c.2292-713_2292-711del	ENSP00000508403.1:n.2292-713_2292-711del
ENST00000683680.1:c.2319-713_2319-711del	ENSP00000507223.1:n.2319-713_2319-711del
ENST00000684163.1:c.2204-1181_2204-1179del	ENSP00000508262.1:n.2204-1181_2204-1179del
ENST00000684196.1:n.4543-1181_4543-1179del
ENST00000684325.1:c.2186-8991_2186-8989del	ENSP00000508121.1:n.2186-8991_2186-8989del
ENST00000684385.1:c.2221-1181_2221-1179del	ENSP00000507855.1:n.2221-1181_2221-1179del
ENST00000684497.1:c.2186-8021_2186-8019del	ENSP00000507057.1:n.2186-8021_2186-8019del
ENST00000382292.9:c.13211_13213del MANE Select	ENSP00000371729.3:p.Glu4404del
ENST00000423156.2:c.2186-1181_2186-1179del	ENSP00000390925.2:n.2186-1181_2186-1179del
ENST00000455470.6:c.2432-1181_2432-1179del	ENSP00000406565.2:n.2432-1181_2432-1179del
ENST00000382292.7:c.13211_13213del	ENSP00000371729.3:p.Glu4404del
ENST00000382298.7:c.13211_13213del	ENSP00000371735.3:p.Glu4404del
ENST00000402364.1:c.10961_10963del	ENSP00000385844.1:p.Glu3654del
ENST00000423156.1:c.1058-1181_1058-1179del	ENSP00000390925.1:n.1058-1181_1058-1179del
ENST00000455470.5:c.2130-1181_2130-1179del
NM_001278055.1:c.12770_12772del	NP_001264984.1:p.Glu4257del
NM_014363.5:c.13211_13213del	NP_055178.3:p.Glu4404del
XM_005266338.1:c.13238_13240del	XP_005266395.1:p.Glu4413del
XM_011535038.1:c.13262_13264del	XP_011533340.1:p.Glu4421del
XM_011535039.1:c.13229_13231del	XP_011533341.1:p.Glu4410del
XM_005266338.2:c.13238_13240del	XP_005266395.1:p.Glu4413del
XM_011535039.2:c.13229_13231del	XP_011533341.1:p.Glu4410del
XM_017020539.1:c.13202_13204del	XP_016876028.1:p.Glu4401del
XM_024449337.1:c.13238_13240del	XP_024305105.1:p.Glu4413del
NM_014363.6:c.13211_13213del MANE Select	NP_055178.3:p.Glu4404del
NM_001278055.2:c.12770_12772del	NP_001264984.1:p.Glu4257del