Canonical Allele Identifier: CA2695199233

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678583
• ClinVar RCV Id: RCV003472579

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339115_23339116del , CM000675.2:g.23339115_23339116del	GRCh38
NC_000013.10:g.23913254_23913255del , CM000675.1:g.23913254_23913255del	GRCh37
NC_000013.9:g.22811254_22811255del	NCBI36
NG_012342.1:g.99589_99590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14671_2185+14672del	ENSP00000508399.1:n.2185+14671_2185+14672del
ENST00000682944.1:c.4789_4790del	ENSP00000507173.1:p.Ile1597GlnfsTer2
ENST00000683210.1:c.2185+14671_2185+14672del	ENSP00000506739.1:n.2185+14671_2185+14672del
ENST00000683270.1:c.4753_4754del	ENSP00000507624.1:p.Ile1585GlnfsTer2
ENST00000683367.1:c.2177-9630_2177-9629del	ENSP00000507780.1:n.2177-9630_2177-9629del
ENST00000683489.1:c.2291+2471_2291+2472del	ENSP00000508403.1:n.2291+2471_2291+2472del
ENST00000683680.1:c.2318+2471_2318+2472del	ENSP00000507223.1:n.2318+2471_2318+2472del
ENST00000684163.1:c.2203+7697_2203+7698del	ENSP00000508262.1:n.2203+7697_2203+7698del
ENST00000684196.1:n.4543-9630_4543-9629del
ENST00000684325.1:c.2185+14671_2185+14672del	ENSP00000508121.1:n.2185+14671_2185+14672del
ENST00000684385.1:c.2220+7697_2220+7698del	ENSP00000507855.1:n.2220+7697_2220+7698del
ENST00000684497.1:c.2185+14671_2185+14672del	ENSP00000507057.1:n.2185+14671_2185+14672del
ENST00000382292.9:c.4762_4763del MANE Select	ENSP00000371729.3:p.Ile1588GlnfsTer2
ENST00000423156.2:c.2186-9630_2186-9629del	ENSP00000390925.2:n.2186-9630_2186-9629del
ENST00000455470.6:c.2431+2331_2431+2332del	ENSP00000406565.2:n.2431+2331_2431+2332del
ENST00000382292.7:c.4762_4763del	ENSP00000371729.3:p.Ile1588GlnfsTer2
ENST00000382298.7:c.4762_4763del	ENSP00000371735.3:p.Ile1588GlnfsTer2
ENST00000402364.1:c.2512_2513del	ENSP00000385844.1:p.Ile838GlnfsTer2
ENST00000423156.1:c.1058-9630_1058-9629del	ENSP00000390925.1:n.1058-9630_1058-9629del
ENST00000455470.5:c.2129+2331_2129+2332del
NM_001278055.1:c.4321_4322del	NP_001264984.1:p.Ile1441GlnfsTer2
NM_014363.5:c.4762_4763del	NP_055178.3:p.Ile1588GlnfsTer2
XM_005266338.1:c.4789_4790del	XP_005266395.1:p.Ile1597GlnfsTer2
XM_011535038.1:c.4813_4814del	XP_011533340.1:p.Ile1605GlnfsTer2
XM_011535039.1:c.4780_4781del	XP_011533341.1:p.Ile1594GlnfsTer2
XM_005266338.2:c.4789_4790del	XP_005266395.1:p.Ile1597GlnfsTer2
XM_011535039.2:c.4780_4781del	XP_011533341.1:p.Ile1594GlnfsTer2
XM_017020539.1:c.4753_4754del	XP_016876028.1:p.Ile1585GlnfsTer2
XM_024449337.1:c.4789_4790del	XP_024305105.1:p.Ile1597GlnfsTer2
NM_014363.6:c.4762_4763del MANE Select	NP_055178.3:p.Ile1588GlnfsTer2
NM_001278055.2:c.4321_4322del	NP_001264984.1:p.Ile1441GlnfsTer2