Canonical Allele Identifier: CA2841124593

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334149_23334150insT , CM000675.2:g.23334149_23334150insT	GRCh38
NC_000013.10:g.23908288_23908289insT , CM000675.1:g.23908288_23908289insT	GRCh37
NC_000013.9:g.22806288_22806289insT	NCBI36
NG_012342.1:g.104553_104554insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19635_2185+19636insA	ENSP00000508399.1:n.2185+19635_2185+19636insA
ENST00000682944.1:c.9753_9754insA	ENSP00000507173.1:p.Trp3252MetfsTer3
ENST00000683210.1:c.2185+19635_2185+19636insA	ENSP00000506739.1:n.2185+19635_2185+19636insA
ENST00000683270.1:c.6445+3272_6445+3273insA	ENSP00000507624.1:n.6445+3272_6445+3273insA
ENST00000683367.1:c.2177-4666_2177-4665insA	ENSP00000507780.1:n.2177-4666_2177-4665insA
ENST00000683489.1:c.2292-4198_2292-4197insA	ENSP00000508403.1:n.2292-4198_2292-4197insA
ENST00000683680.1:c.2319-4198_2319-4197insA	ENSP00000507223.1:n.2319-4198_2319-4197insA
ENST00000684163.1:c.2204-4666_2204-4665insA	ENSP00000508262.1:n.2204-4666_2204-4665insA
ENST00000684196.1:n.4543-4666_4543-4665insA
ENST00000684325.1:c.2186-12476_2186-12475insA	ENSP00000508121.1:n.2186-12476_2186-12475insA
ENST00000684385.1:c.2221-4666_2221-4665insA	ENSP00000507855.1:n.2221-4666_2221-4665insA
ENST00000684497.1:c.2186-11506_2186-11505insA	ENSP00000507057.1:n.2186-11506_2186-11505insA
ENST00000382292.9:c.9726_9727insA MANE Select	ENSP00000371729.3:p.Trp3243MetfsTer3
ENST00000423156.2:c.2186-4666_2186-4665insA	ENSP00000390925.2:n.2186-4666_2186-4665insA
ENST00000455470.6:c.2432-4666_2432-4665insA	ENSP00000406565.2:n.2432-4666_2432-4665insA
ENST00000382292.7:c.9726_9727insA	ENSP00000371729.3:p.Trp3243MetfsTer3
ENST00000382298.7:c.9726_9727insA	ENSP00000371735.3:p.Trp3243MetfsTer3
ENST00000402364.1:c.7476_7477insA	ENSP00000385844.1:p.Trp2493MetfsTer3
ENST00000423156.1:c.1058-4666_1058-4665insA	ENSP00000390925.1:n.1058-4666_1058-4665insA
ENST00000455470.5:c.2130-4666_2130-4665insA
NM_001278055.1:c.9285_9286insA	NP_001264984.1:p.Trp3096MetfsTer3
NM_014363.5:c.9726_9727insA	NP_055178.3:p.Trp3243MetfsTer3
XM_005266338.1:c.9753_9754insA	XP_005266395.1:p.Trp3252MetfsTer3
XM_011535038.1:c.9777_9778insA	XP_011533340.1:p.Trp3260MetfsTer3
XM_011535039.1:c.9744_9745insA	XP_011533341.1:p.Trp3249MetfsTer3
XM_005266338.2:c.9753_9754insA	XP_005266395.1:p.Trp3252MetfsTer3
XM_011535039.2:c.9744_9745insA	XP_011533341.1:p.Trp3249MetfsTer3
XM_017020539.1:c.9717_9718insA	XP_016876028.1:p.Trp3240MetfsTer3
XM_024449337.1:c.9753_9754insA	XP_024305105.1:p.Trp3252MetfsTer3
NM_014363.6:c.9726_9727insA MANE Select	NP_055178.3:p.Trp3243MetfsTer3
NM_001278055.2:c.9285_9286insA	NP_001264984.1:p.Trp3096MetfsTer3