Canonical Allele Identifier: CA2580614619

Gene: SACS

Linked Data

• ClinVar Variation Id: 1451188
• ClinVar RCV Id: RCV001993145 ; RCV003136367
• dbSNP Id: rs2137615500

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338053_23338056del , CM000675.2:g.23338053_23338056del	GRCh38
NC_000013.10:g.23912192_23912195del , CM000675.1:g.23912192_23912195del	GRCh37
NC_000013.9:g.22810192_22810195del	NCBI36
NG_012342.1:g.100651_100654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15733_2185+15736del	ENSP00000508399.1:n.2185+15733_2185+15736del
ENST00000682944.1:c.5851_5854del	ENSP00000507173.1:p.Tyr1951MetfsTer9
ENST00000683210.1:c.2185+15733_2185+15736del	ENSP00000506739.1:n.2185+15733_2185+15736del
ENST00000683270.1:c.5815_5818del	ENSP00000507624.1:p.Tyr1939MetfsTer9
ENST00000683367.1:c.2177-8568_2177-8565del	ENSP00000507780.1:n.2177-8568_2177-8565del
ENST00000683489.1:c.2291+3533_2291+3536del	ENSP00000508403.1:n.2291+3533_2291+3536del
ENST00000683680.1:c.2318+3533_2318+3536del	ENSP00000507223.1:n.2318+3533_2318+3536del
ENST00000684163.1:c.2204-8568_2204-8565del	ENSP00000508262.1:n.2204-8568_2204-8565del
ENST00000684196.1:n.4543-8568_4543-8565del
ENST00000684325.1:c.2185+15733_2185+15736del	ENSP00000508121.1:n.2185+15733_2185+15736del
ENST00000684385.1:c.2221-8568_2221-8565del	ENSP00000507855.1:n.2221-8568_2221-8565del
ENST00000684497.1:c.2186-15408_2186-15405del	ENSP00000507057.1:n.2186-15408_2186-15405del
ENST00000382292.9:c.5824_5827del MANE Select	ENSP00000371729.3:p.Tyr1942MetfsTer9
ENST00000423156.2:c.2186-8568_2186-8565del	ENSP00000390925.2:n.2186-8568_2186-8565del
ENST00000455470.6:c.2431+3393_2431+3396del	ENSP00000406565.2:n.2431+3393_2431+3396del
ENST00000382292.7:c.5824_5827del	ENSP00000371729.3:p.Tyr1942MetfsTer9
ENST00000382298.7:c.5824_5827del	ENSP00000371735.3:p.Tyr1942MetfsTer9
ENST00000402364.1:c.3574_3577del	ENSP00000385844.1:p.Tyr1192MetfsTer9
ENST00000423156.1:c.1058-8568_1058-8565del	ENSP00000390925.1:n.1058-8568_1058-8565del
ENST00000455470.5:c.2129+3393_2129+3396del
NM_001278055.1:c.5383_5386del	NP_001264984.1:p.Tyr1795MetfsTer9
NM_014363.5:c.5824_5827del	NP_055178.3:p.Tyr1942MetfsTer9
XM_005266338.1:c.5851_5854del	XP_005266395.1:p.Tyr1951MetfsTer9
XM_011535038.1:c.5875_5878del	XP_011533340.1:p.Tyr1959MetfsTer9
XM_011535039.1:c.5842_5845del	XP_011533341.1:p.Tyr1948MetfsTer9
XM_005266338.2:c.5851_5854del	XP_005266395.1:p.Tyr1951MetfsTer9
XM_011535039.2:c.5842_5845del	XP_011533341.1:p.Tyr1948MetfsTer9
XM_017020539.1:c.5815_5818del	XP_016876028.1:p.Tyr1939MetfsTer9
XM_024449337.1:c.5851_5854del	XP_024305105.1:p.Tyr1951MetfsTer9
NM_014363.6:c.5824_5827del MANE Select	NP_055178.3:p.Tyr1942MetfsTer9
NM_001278055.2:c.5383_5386del	NP_001264984.1:p.Tyr1795MetfsTer9