Canonical Allele Identifier: CA696611965

Gene: SACS

Linked Data

• ClinVar Variation Id: 1395488
• ClinVar RCV Id: RCV001919725 ; RCV003471011
• dbSNP Id: rs1294102415
• MyVariant Identifiers: chr13:g.23910931_23910935del (hg19) ; chr13:g.23336792_23336796del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336796_23336800del , CM000675.2:g.23336796_23336800del	GRCh38
NC_000013.10:g.23910935_23910939del , CM000675.1:g.23910935_23910939del	GRCh37
NC_000013.9:g.22808935_22808939del	NCBI36
NG_012342.1:g.101907_101911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16989_2185+16993del	ENSP00000508399.1:n.2185+16989_2185+16993del
ENST00000682944.1:c.7107_7111del	ENSP00000507173.1:p.His2371LysfsTer3
ENST00000683210.1:c.2185+16989_2185+16993del	ENSP00000506739.1:n.2185+16989_2185+16993del
ENST00000683270.1:c.6445+626_6445+630del	ENSP00000507624.1:n.6445+626_6445+630del
ENST00000683367.1:c.2177-7312_2177-7308del	ENSP00000507780.1:n.2177-7312_2177-7308del
ENST00000683489.1:c.2291+4789_2291+4793del	ENSP00000508403.1:n.2291+4789_2291+4793del
ENST00000683680.1:c.2318+4789_2318+4793del	ENSP00000507223.1:n.2318+4789_2318+4793del
ENST00000684163.1:c.2204-7312_2204-7308del	ENSP00000508262.1:n.2204-7312_2204-7308del
ENST00000684196.1:n.4543-7312_4543-7308del
ENST00000684325.1:c.2186-15122_2186-15118del	ENSP00000508121.1:n.2186-15122_2186-15118del
ENST00000684385.1:c.2221-7312_2221-7308del	ENSP00000507855.1:n.2221-7312_2221-7308del
ENST00000684497.1:c.2186-14152_2186-14148del	ENSP00000507057.1:n.2186-14152_2186-14148del
ENST00000382292.9:c.7080_7084del MANE Select	ENSP00000371729.3:p.His2362LysfsTer3
ENST00000423156.2:c.2186-7312_2186-7308del	ENSP00000390925.2:n.2186-7312_2186-7308del
ENST00000455470.6:c.2431+4649_2431+4653del	ENSP00000406565.2:n.2431+4649_2431+4653del
ENST00000382292.7:c.7080_7084del	ENSP00000371729.3:p.His2362LysfsTer3
ENST00000382298.7:c.7080_7084del	ENSP00000371735.3:p.His2362LysfsTer3
ENST00000402364.1:c.4830_4834del	ENSP00000385844.1:p.His1612LysfsTer3
ENST00000423156.1:c.1058-7312_1058-7308del	ENSP00000390925.1:n.1058-7312_1058-7308del
ENST00000455470.5:c.2129+4649_2129+4653del
NM_001278055.1:c.6639_6643del	NP_001264984.1:p.His2215LysfsTer3
NM_014363.5:c.7080_7084del	NP_055178.3:p.His2362LysfsTer3
XM_005266338.1:c.7107_7111del	XP_005266395.1:p.His2371LysfsTer3
XM_011535038.1:c.7131_7135del	XP_011533340.1:p.His2379LysfsTer3
XM_011535039.1:c.7098_7102del	XP_011533341.1:p.His2368LysfsTer3
XM_005266338.2:c.7107_7111del	XP_005266395.1:p.His2371LysfsTer3
XM_011535039.2:c.7098_7102del	XP_011533341.1:p.His2368LysfsTer3
XM_017020539.1:c.7071_7075del	XP_016876028.1:p.His2359LysfsTer3
XM_024449337.1:c.7107_7111del	XP_024305105.1:p.His2371LysfsTer3
NM_014363.6:c.7080_7084del MANE Select	NP_055178.3:p.His2362LysfsTer3
NM_001278055.2:c.6639_6643del	NP_001264984.1:p.His2215LysfsTer3