Canonical Allele Identifier: CA2573053792

Gene: SACS

Linked Data

• ClinVar Variation Id: 1325031
• ClinVar RCV Id: RCV001783708
• dbSNP Id: rs2137606577

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337084_23337111del , CM000675.2:g.23337084_23337111del	GRCh38
NC_000013.10:g.23911223_23911250del , CM000675.1:g.23911223_23911250del	GRCh37
NC_000013.9:g.22809223_22809250del	NCBI36
NG_012342.1:g.101594_101621del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16676_2185+16703del	ENSP00000508399.1:n.2185+16676_2185+16703...
ENST00000682944.1:c.6794_6821del	ENSP00000507173.1:p.Leu2265ProfsTer30
ENST00000683210.1:c.2185+16676_2185+16703del	ENSP00000506739.1:n.2185+16676_2185+16703...
ENST00000683270.1:c.6445+313_6445+340del	ENSP00000507624.1:n.6445+313_6445+340del
ENST00000683367.1:c.2177-7625_2177-7598del	ENSP00000507780.1:n.2177-7625_2177-7598de...
ENST00000683489.1:c.2291+4476_2291+4503del	ENSP00000508403.1:n.2291+4476_2291+4503de...
ENST00000683680.1:c.2318+4476_2318+4503del	ENSP00000507223.1:n.2318+4476_2318+4503de...
ENST00000684163.1:c.2204-7625_2204-7598del	ENSP00000508262.1:n.2204-7625_2204-7598de...
ENST00000684196.1:n.4543-7625_4543-7598del
ENST00000684325.1:c.2186-15435_2186-15408del	ENSP00000508121.1:n.2186-15435_2186-15408...
ENST00000684385.1:c.2221-7625_2221-7598del	ENSP00000507855.1:n.2221-7625_2221-7598de...
ENST00000684497.1:c.2186-14465_2186-14438del	ENSP00000507057.1:n.2186-14465_2186-14438...
ENST00000382292.9:c.6767_6794del MANE Select	ENSP00000371729.3:p.Leu2256ProfsTer30
ENST00000423156.2:c.2186-7625_2186-7598del	ENSP00000390925.2:n.2186-7625_2186-7598de...
ENST00000455470.6:c.2431+4336_2431+4363del	ENSP00000406565.2:n.2431+4336_2431+4363de...
ENST00000382292.7:c.6767_6794del	ENSP00000371729.3:p.Leu2256ProfsTer30
ENST00000382298.7:c.6767_6794del	ENSP00000371735.3:p.Leu2256ProfsTer30
ENST00000402364.1:c.4517_4544del	ENSP00000385844.1:p.Leu1506ProfsTer30
ENST00000423156.1:c.1058-7625_1058-7598del	ENSP00000390925.1:n.1058-7625_1058-7598de...
ENST00000455470.5:c.2129+4336_2129+4363del
NM_001278055.1:c.6326_6353del	NP_001264984.1:p.Leu2109ProfsTer30
NM_014363.5:c.6767_6794del	NP_055178.3:p.Leu2256ProfsTer30
XM_005266338.1:c.6794_6821del	XP_005266395.1:p.Leu2265ProfsTer30
XM_011535038.1:c.6818_6845del	XP_011533340.1:p.Leu2273ProfsTer30
XM_011535039.1:c.6785_6812del	XP_011533341.1:p.Leu2262ProfsTer30
XM_005266338.2:c.6794_6821del	XP_005266395.1:p.Leu2265ProfsTer30
XM_011535039.2:c.6785_6812del	XP_011533341.1:p.Leu2262ProfsTer30
XM_017020539.1:c.6758_6785del	XP_016876028.1:p.Leu2253ProfsTer30
XM_024449337.1:c.6794_6821del	XP_024305105.1:p.Leu2265ProfsTer30
NM_014363.6:c.6767_6794del MANE Select	NP_055178.3:p.Leu2256ProfsTer30
NM_001278055.2:c.6326_6353del	NP_001264984.1:p.Leu2109ProfsTer30