Canonical Allele Identifier: CA2798500436

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330781_23330784del , CM000675.2:g.23330781_23330784del	GRCh38
NC_000013.10:g.23904920_23904923del , CM000675.1:g.23904920_23904923del	GRCh37
NC_000013.9:g.22802920_22802923del	NCBI36
NG_012342.1:g.107919_107922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18669_2186-18666del	ENSP00000508399.1:n.2186-18669_2186-18666del
ENST00000682944.1:c.13119_13122del	ENSP00000507173.1:p.Gln4374LeufsTer3
ENST00000683210.1:c.2185+23001_2185+23004del	ENSP00000506739.1:n.2185+23001_2185+23004del
ENST00000683270.1:c.6446-1300_6446-1297del	ENSP00000507624.1:n.6446-1300_6446-1297del
ENST00000683367.1:c.2177-1300_2177-1297del	ENSP00000507780.1:n.2177-1300_2177-1297del
ENST00000683489.1:c.2292-832_2292-829del	ENSP00000508403.1:n.2292-832_2292-829del
ENST00000683680.1:c.2319-832_2319-829del	ENSP00000507223.1:n.2319-832_2319-829del
ENST00000684163.1:c.2204-1300_2204-1297del	ENSP00000508262.1:n.2204-1300_2204-1297del
ENST00000684196.1:n.4543-1300_4543-1297del
ENST00000684325.1:c.2186-9110_2186-9107del	ENSP00000508121.1:n.2186-9110_2186-9107del
ENST00000684385.1:c.2221-1300_2221-1297del	ENSP00000507855.1:n.2221-1300_2221-1297del
ENST00000684497.1:c.2186-8140_2186-8137del	ENSP00000507057.1:n.2186-8140_2186-8137del
ENST00000382292.9:c.13092_13095del MANE Select	ENSP00000371729.3:p.Gln4365LeufsTer3
ENST00000423156.2:c.2186-1300_2186-1297del	ENSP00000390925.2:n.2186-1300_2186-1297del
ENST00000455470.6:c.2432-1300_2432-1297del	ENSP00000406565.2:n.2432-1300_2432-1297del
ENST00000382292.7:c.13092_13095del	ENSP00000371729.3:p.Gln4365LeufsTer3
ENST00000382298.7:c.13092_13095del	ENSP00000371735.3:p.Gln4365LeufsTer3
ENST00000402364.1:c.10842_10845del	ENSP00000385844.1:p.Gln3615LeufsTer3
ENST00000423156.1:c.1058-1300_1058-1297del	ENSP00000390925.1:n.1058-1300_1058-1297del
ENST00000455470.5:c.2130-1300_2130-1297del
NM_001278055.1:c.12651_12654del	NP_001264984.1:p.Gln4218LeufsTer3
NM_014363.5:c.13092_13095del	NP_055178.3:p.Gln4365LeufsTer3
XM_005266338.1:c.13119_13122del	XP_005266395.1:p.Gln4374LeufsTer3
XM_011535038.1:c.13143_13146del	XP_011533340.1:p.Gln4382LeufsTer3
XM_011535039.1:c.13110_13113del	XP_011533341.1:p.Gln4371LeufsTer3
XM_005266338.2:c.13119_13122del	XP_005266395.1:p.Gln4374LeufsTer3
XM_011535039.2:c.13110_13113del	XP_011533341.1:p.Gln4371LeufsTer3
XM_017020539.1:c.13083_13086del	XP_016876028.1:p.Gln4362LeufsTer3
XM_024449337.1:c.13119_13122del	XP_024305105.1:p.Gln4374LeufsTer3
NM_014363.6:c.13092_13095del MANE Select	NP_055178.3:p.Gln4365LeufsTer3
NM_001278055.2:c.12651_12654del	NP_001264984.1:p.Gln4218LeufsTer3