Canonical Allele Identifier: CA2622328911

Gene: SACS

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334047_23334050del , CM000675.2:g.23334047_23334050del	GRCh38
NC_000013.10:g.23908186_23908189del , CM000675.1:g.23908186_23908189del	GRCh37
NC_000013.9:g.22806186_22806189del	NCBI36
NG_012342.1:g.104654_104657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19736_2185+19739del	ENSP00000508399.1:n.2185+19736_2185+19739del
ENST00000682944.1:c.9854_9857del	ENSP00000507173.1:p.Lys3285ThrfsTer?
ENST00000683210.1:c.2185+19736_2185+19739del	ENSP00000506739.1:n.2185+19736_2185+19739del
ENST00000683270.1:c.6445+3373_6445+3376del	ENSP00000507624.1:n.6445+3373_6445+3376del
ENST00000683367.1:c.2177-4565_2177-4562del	ENSP00000507780.1:n.2177-4565_2177-4562del
ENST00000683489.1:c.2292-4097_2292-4094del	ENSP00000508403.1:n.2292-4097_2292-4094del
ENST00000683680.1:c.2319-4097_2319-4094del	ENSP00000507223.1:n.2319-4097_2319-4094del
ENST00000684163.1:c.2204-4565_2204-4562del	ENSP00000508262.1:n.2204-4565_2204-4562del
ENST00000684196.1:n.4543-4565_4543-4562del
ENST00000684325.1:c.2186-12375_2186-12372del	ENSP00000508121.1:n.2186-12375_2186-12372del
ENST00000684385.1:c.2221-4565_2221-4562del	ENSP00000507855.1:n.2221-4565_2221-4562del
ENST00000684497.1:c.2186-11405_2186-11402del	ENSP00000507057.1:n.2186-11405_2186-11402del
ENST00000382292.9:c.9827_9830del MANE Select	ENSP00000371729.3:p.Lys3276ThrfsTer?
ENST00000423156.2:c.2186-4565_2186-4562del	ENSP00000390925.2:n.2186-4565_2186-4562del
ENST00000455470.6:c.2432-4565_2432-4562del	ENSP00000406565.2:n.2432-4565_2432-4562del
ENST00000382292.7:c.9827_9830del	ENSP00000371729.3:p.Lys3276ThrfsTer?
ENST00000382298.7:c.9827_9830del	ENSP00000371735.3:p.Lys3276ThrfsTer?
ENST00000402364.1:c.7577_7580del	ENSP00000385844.1:p.Lys2526ThrfsTer?
ENST00000423156.1:c.1058-4565_1058-4562del	ENSP00000390925.1:n.1058-4565_1058-4562del
ENST00000455470.5:c.2130-4565_2130-4562del
NM_001278055.1:c.9386_9389del	NP_001264984.1:p.Lys3129ThrfsTer?
NM_014363.5:c.9827_9830del	NP_055178.3:p.Lys3276ThrfsTer?
XM_005266338.1:c.9854_9857del	XP_005266395.1:p.Lys3285ThrfsTer?
XM_011535038.1:c.9878_9881del	XP_011533340.1:p.Lys3293ThrfsTer?
XM_011535039.1:c.9845_9848del	XP_011533341.1:p.Lys3282ThrfsTer?
XM_005266338.2:c.9854_9857del	XP_005266395.1:p.Lys3285ThrfsTer?
XM_011535039.2:c.9845_9848del	XP_011533341.1:p.Lys3282ThrfsTer?
XM_017020539.1:c.9818_9821del	XP_016876028.1:p.Lys3273ThrfsTer?
XM_024449337.1:c.9854_9857del	XP_024305105.1:p.Lys3285ThrfsTer?
NM_014363.6:c.9827_9830del MANE Select	NP_055178.3:p.Lys3276ThrfsTer?
NM_001278055.2:c.9386_9389del	NP_001264984.1:p.Lys3129ThrfsTer?