Canonical Allele Identifier: CA2505409191

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333332_23333333insTATT , CM000675.2:g.23333332_23333333insTATT	GRCh38
NC_000013.10:g.23907471_23907472insTATT , CM000675.1:g.23907471_23907472insTATT	GRCh37
NC_000013.9:g.22805471_22805472insTATT	NCBI36
NG_012342.1:g.105372_105373insTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20454_2185+20455insTAAA	ENSP00000508399.1:n.2185+20454_2185+20455insTAAA
ENST00000682944.1:c.10572_10573insTAAA	ENSP00000507173.1:p.Gln3525Ter
ENST00000683210.1:c.2185+20454_2185+20455insTAAA	ENSP00000506739.1:n.2185+20454_2185+20455insTAAA
ENST00000683270.1:c.6446-3847_6446-3846insTAAA	ENSP00000507624.1:n.6446-3847_6446-3846insTAAA
ENST00000683367.1:c.2177-3847_2177-3846insTAAA	ENSP00000507780.1:n.2177-3847_2177-3846insTAAA
ENST00000683489.1:c.2292-3379_2292-3378insTAAA	ENSP00000508403.1:n.2292-3379_2292-3378insTAAA
ENST00000683680.1:c.2319-3379_2319-3378insTAAA	ENSP00000507223.1:n.2319-3379_2319-3378insTAAA
ENST00000684163.1:c.2204-3847_2204-3846insTAAA	ENSP00000508262.1:n.2204-3847_2204-3846insTAAA
ENST00000684196.1:n.4543-3847_4543-3846insTAAA
ENST00000684325.1:c.2186-11657_2186-11656insTAAA	ENSP00000508121.1:n.2186-11657_2186-11656insTAAA
ENST00000684385.1:c.2221-3847_2221-3846insTAAA	ENSP00000507855.1:n.2221-3847_2221-3846insTAAA
ENST00000684497.1:c.2186-10687_2186-10686insTAAA	ENSP00000507057.1:n.2186-10687_2186-10686insTAAA
ENST00000382292.9:c.10545_10546insTAAA MANE Select	ENSP00000371729.3:p.Gln3516Ter
ENST00000423156.2:c.2186-3847_2186-3846insTAAA	ENSP00000390925.2:n.2186-3847_2186-3846insTAAA
ENST00000455470.6:c.2432-3847_2432-3846insTAAA	ENSP00000406565.2:n.2432-3847_2432-3846insTAAA
ENST00000382292.7:c.10545_10546insTAAA	ENSP00000371729.3:p.Gln3516Ter
ENST00000382298.7:c.10545_10546insTAAA	ENSP00000371735.3:p.Gln3516Ter
ENST00000402364.1:c.8295_8296insTAAA	ENSP00000385844.1:p.Gln2766Ter
ENST00000423156.1:c.1058-3847_1058-3846insTAAA	ENSP00000390925.1:n.1058-3847_1058-3846insTAAA
ENST00000455470.5:c.2130-3847_2130-3846insTAAA
NM_001278055.1:c.10104_10105insTAAA	NP_001264984.1:p.Gln3369Ter
NM_014363.5:c.10545_10546insTAAA	NP_055178.3:p.Gln3516Ter
XM_005266338.1:c.10572_10573insTAAA	XP_005266395.1:p.Gln3525Ter
XM_011535038.1:c.10596_10597insTAAA	XP_011533340.1:p.Gln3533Ter
XM_011535039.1:c.10563_10564insTAAA	XP_011533341.1:p.Gln3522Ter
XM_005266338.2:c.10572_10573insTAAA	XP_005266395.1:p.Gln3525Ter
XM_011535039.2:c.10563_10564insTAAA	XP_011533341.1:p.Gln3522Ter
XM_017020539.1:c.10536_10537insTAAA	XP_016876028.1:p.Gln3513Ter
XM_024449337.1:c.10572_10573insTAAA	XP_024305105.1:p.Gln3525Ter
NM_014363.6:c.10545_10546insTAAA MANE Select	NP_055178.3:p.Gln3516Ter
NM_001278055.2:c.10104_10105insTAAA	NP_001264984.1:p.Gln3369Ter