Canonical Allele Identifier: CA2580614627

Gene: SACS

Linked Data

• ClinVar Variation Id: 1455189
• ClinVar RCV Id: RCV001962960
• dbSNP Id: rs2137601578

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336561_23336565del , CM000675.2:g.23336561_23336565del	GRCh38
NC_000013.10:g.23910700_23910704del , CM000675.1:g.23910700_23910704del	GRCh37
NC_000013.9:g.22808700_22808704del	NCBI36
NG_012342.1:g.102143_102147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17225_2185+17229del	ENSP00000508399.1:n.2185+17225_2185+17229del
ENST00000682944.1:c.7343_7347del	ENSP00000507173.1:p.Lys2448ThrfsTer5
ENST00000683210.1:c.2185+17225_2185+17229del	ENSP00000506739.1:n.2185+17225_2185+17229del
ENST00000683270.1:c.6445+862_6445+866del	ENSP00000507624.1:n.6445+862_6445+866del
ENST00000683367.1:c.2177-7076_2177-7072del	ENSP00000507780.1:n.2177-7076_2177-7072del
ENST00000683489.1:c.2291+5025_2291+5029del	ENSP00000508403.1:n.2291+5025_2291+5029del
ENST00000683680.1:c.2318+5025_2318+5029del	ENSP00000507223.1:n.2318+5025_2318+5029del
ENST00000684163.1:c.2204-7076_2204-7072del	ENSP00000508262.1:n.2204-7076_2204-7072del
ENST00000684196.1:n.4543-7076_4543-7072del
ENST00000684325.1:c.2186-14886_2186-14882del	ENSP00000508121.1:n.2186-14886_2186-14882del
ENST00000684385.1:c.2221-7076_2221-7072del	ENSP00000507855.1:n.2221-7076_2221-7072del
ENST00000684497.1:c.2186-13916_2186-13912del	ENSP00000507057.1:n.2186-13916_2186-13912del
ENST00000382292.9:c.7316_7320del MANE Select	ENSP00000371729.3:p.Lys2439ThrfsTer5
ENST00000423156.2:c.2186-7076_2186-7072del	ENSP00000390925.2:n.2186-7076_2186-7072del
ENST00000455470.6:c.2431+4885_2431+4889del	ENSP00000406565.2:n.2431+4885_2431+4889del
ENST00000382292.7:c.7316_7320del	ENSP00000371729.3:p.Lys2439ThrfsTer5
ENST00000382298.7:c.7316_7320del	ENSP00000371735.3:p.Lys2439ThrfsTer5
ENST00000402364.1:c.5066_5070del	ENSP00000385844.1:p.Lys1689ThrfsTer5
ENST00000423156.1:c.1058-7076_1058-7072del	ENSP00000390925.1:n.1058-7076_1058-7072del
ENST00000455470.5:c.2129+4885_2129+4889del
NM_001278055.1:c.6875_6879del	NP_001264984.1:p.Lys2292ThrfsTer5
NM_014363.5:c.7316_7320del	NP_055178.3:p.Lys2439ThrfsTer5
XM_005266338.1:c.7343_7347del	XP_005266395.1:p.Lys2448ThrfsTer5
XM_011535038.1:c.7367_7371del	XP_011533340.1:p.Lys2456ThrfsTer5
XM_011535039.1:c.7334_7338del	XP_011533341.1:p.Lys2445ThrfsTer5
XM_005266338.2:c.7343_7347del	XP_005266395.1:p.Lys2448ThrfsTer5
XM_011535039.2:c.7334_7338del	XP_011533341.1:p.Lys2445ThrfsTer5
XM_017020539.1:c.7307_7311del	XP_016876028.1:p.Lys2436ThrfsTer5
XM_024449337.1:c.7343_7347del	XP_024305105.1:p.Lys2448ThrfsTer5
NM_014363.6:c.7316_7320del MANE Select	NP_055178.3:p.Lys2439ThrfsTer5
NM_001278055.2:c.6875_6879del	NP_001264984.1:p.Lys2292ThrfsTer5