Canonical Allele Identifier: CA658823527

Gene: SACS

Linked Data

• ClinVar Variation Id: 558130
• ClinVar RCV Id: RCV000674356
• dbSNP Id: rs1204242892
• gnomAD v4: 13-23337404-TATC-T
• MyVariant Identifiers: chr13:g.23911544_23911546del (hg19) ; chr13:g.23337405_23337407del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337408_23337410del , CM000675.2:g.23337408_23337410del	GRCh38
NC_000013.10:g.23911547_23911549del , CM000675.1:g.23911547_23911549del	GRCh37
NC_000013.9:g.22809547_22809549del	NCBI36
NG_012342.1:g.101296_101298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16378_2185+16380del	ENSP00000508399.1:n.2185+16378_2185+16380del
ENST00000682944.1:c.6496_6498del	ENSP00000507173.1:p.Asp2166del
ENST00000683210.1:c.2185+16378_2185+16380del	ENSP00000506739.1:n.2185+16378_2185+16380del
ENST00000683270.1:c.6445+15_6445+17del	ENSP00000507624.1:n.6445+15_6445+17del
ENST00000683367.1:c.2177-7923_2177-7921del	ENSP00000507780.1:n.2177-7923_2177-7921del
ENST00000683489.1:c.2291+4178_2291+4180del	ENSP00000508403.1:n.2291+4178_2291+4180del
ENST00000683680.1:c.2318+4178_2318+4180del	ENSP00000507223.1:n.2318+4178_2318+4180del
ENST00000684163.1:c.2204-7923_2204-7921del	ENSP00000508262.1:n.2204-7923_2204-7921del
ENST00000684196.1:n.4543-7923_4543-7921del
ENST00000684325.1:c.2186-15733_2186-15731del	ENSP00000508121.1:n.2186-15733_2186-15731del
ENST00000684385.1:c.2221-7923_2221-7921del	ENSP00000507855.1:n.2221-7923_2221-7921del
ENST00000684497.1:c.2186-14763_2186-14761del	ENSP00000507057.1:n.2186-14763_2186-14761del
ENST00000382292.9:c.6469_6471del MANE Select	ENSP00000371729.3:p.Asp2157del
ENST00000423156.2:c.2186-7923_2186-7921del	ENSP00000390925.2:n.2186-7923_2186-7921del
ENST00000455470.6:c.2431+4038_2431+4040del	ENSP00000406565.2:n.2431+4038_2431+4040del
ENST00000382292.7:c.6469_6471del	ENSP00000371729.3:p.Asp2157del
ENST00000382298.7:c.6469_6471del	ENSP00000371735.3:p.Asp2157del
ENST00000402364.1:c.4219_4221del	ENSP00000385844.1:p.Asp1407del
ENST00000423156.1:c.1058-7923_1058-7921del	ENSP00000390925.1:n.1058-7923_1058-7921del
ENST00000455470.5:c.2129+4038_2129+4040del
NM_001278055.1:c.6028_6030del	NP_001264984.1:p.Asp2010del
NM_014363.5:c.6469_6471del	NP_055178.3:p.Asp2157del
XM_005266338.1:c.6496_6498del	XP_005266395.1:p.Asp2166del
XM_011535038.1:c.6520_6522del	XP_011533340.1:p.Asp2174del
XM_011535039.1:c.6487_6489del	XP_011533341.1:p.Asp2163del
XM_005266338.2:c.6496_6498del	XP_005266395.1:p.Asp2166del
XM_011535039.2:c.6487_6489del	XP_011533341.1:p.Asp2163del
XM_017020539.1:c.6460_6462del	XP_016876028.1:p.Asp2154del
XM_024449337.1:c.6496_6498del	XP_024305105.1:p.Asp2166del
NM_014363.6:c.6469_6471del MANE Select	NP_055178.3:p.Asp2157del
NM_001278055.2:c.6028_6030del	NP_001264984.1:p.Asp2010del