Canonical Allele Identifier: CA2798500900

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339753_23339754insTGT , CM000675.2:g.23339753_23339754insTGT	GRCh38
NC_000013.10:g.23913892_23913893insTGT , CM000675.1:g.23913892_23913893insTGT	GRCh37
NC_000013.9:g.22811892_22811893insTGT	NCBI36
NG_012342.1:g.98949_98950insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14031_2185+14032insACA	ENSP00000508399.1:n.2185+14031_2185+14032insACA
ENST00000682944.1:c.4149_4150insACA	ENSP00000507173.1:p.Ser1383_Pro1384insThr
ENST00000683210.1:c.2185+14031_2185+14032insACA	ENSP00000506739.1:n.2185+14031_2185+14032insACA
ENST00000683270.1:c.4113_4114insACA	ENSP00000507624.1:p.Ser1371_Pro1372insThr
ENST00000683367.1:c.2177-10270_2177-10269insACA	ENSP00000507780.1:n.2177-10270_2177-10269insACA
ENST00000683489.1:c.2291+1831_2291+1832insACA	ENSP00000508403.1:n.2291+1831_2291+1832insACA
ENST00000683680.1:c.2318+1831_2318+1832insACA	ENSP00000507223.1:n.2318+1831_2318+1832insACA
ENST00000684163.1:c.2203+7057_2203+7058insACA	ENSP00000508262.1:n.2203+7057_2203+7058insACA
ENST00000684196.1:n.4543-10270_4543-10269insACA
ENST00000684325.1:c.2185+14031_2185+14032insACA	ENSP00000508121.1:n.2185+14031_2185+14032insACA
ENST00000684385.1:c.2220+7057_2220+7058insACA	ENSP00000507855.1:n.2220+7057_2220+7058insACA
ENST00000684497.1:c.2185+14031_2185+14032insACA	ENSP00000507057.1:n.2185+14031_2185+14032insACA
ENST00000382292.9:c.4122_4123insACA MANE Select	ENSP00000371729.3:p.Ser1374_Pro1375insThr
ENST00000423156.2:c.2186-10270_2186-10269insACA	ENSP00000390925.2:n.2186-10270_2186-10269insACA
ENST00000455470.6:c.2431+1691_2431+1692insACA	ENSP00000406565.2:n.2431+1691_2431+1692insACA
ENST00000382292.7:c.4122_4123insACA	ENSP00000371729.3:p.Ser1374_Pro1375insThr
ENST00000382298.7:c.4122_4123insACA	ENSP00000371735.3:p.Ser1374_Pro1375insThr
ENST00000402364.1:c.1872_1873insACA	ENSP00000385844.1:p.Ser624_Pro625insThr
ENST00000423156.1:c.1058-10270_1058-10269insACA	ENSP00000390925.1:n.1058-10270_1058-10269insACA
ENST00000455470.5:c.2129+1691_2129+1692insACA
NM_001278055.1:c.3681_3682insACA	NP_001264984.1:p.Ser1227_Pro1228insThr
NM_014363.5:c.4122_4123insACA	NP_055178.3:p.Ser1374_Pro1375insThr
XM_005266338.1:c.4149_4150insACA	XP_005266395.1:p.Ser1383_Pro1384insThr
XM_011535038.1:c.4173_4174insACA	XP_011533340.1:p.Ser1391_Pro1392insThr
XM_011535039.1:c.4140_4141insACA	XP_011533341.1:p.Ser1380_Pro1381insThr
XM_005266338.2:c.4149_4150insACA	XP_005266395.1:p.Ser1383_Pro1384insThr
XM_011535039.2:c.4140_4141insACA	XP_011533341.1:p.Ser1380_Pro1381insThr
XM_017020539.1:c.4113_4114insACA	XP_016876028.1:p.Ser1371_Pro1372insThr
XM_024449337.1:c.4149_4150insACA	XP_024305105.1:p.Ser1383_Pro1384insThr
NM_014363.6:c.4122_4123insACA MANE Select	NP_055178.3:p.Ser1374_Pro1375insThr
NM_001278055.2:c.3681_3682insACA	NP_001264984.1:p.Ser1227_Pro1228insThr