Canonical Allele Identifier: CA2740097640

Gene: SACS

Linked Data

• ClinVar Variation Id: 2982856
• ClinVar RCV Id: RCV003845487

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337109del , CM000675.2:g.23337109del	GRCh38
NC_000013.10:g.23911248del , CM000675.1:g.23911248del	GRCh37
NC_000013.9:g.22809248del	NCBI36
NG_012342.1:g.101597del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16679del	ENSP00000508399.1:n.2185+16679del
ENST00000682944.1:c.6797del	ENSP00000507173.1:p.Leu2266CysfsTer5
ENST00000683210.1:c.2185+16679del	ENSP00000506739.1:n.2185+16679del
ENST00000683270.1:c.6445+316del	ENSP00000507624.1:n.6445+316del
ENST00000683367.1:c.2177-7622del	ENSP00000507780.1:n.2177-7622del
ENST00000683489.1:c.2291+4479del	ENSP00000508403.1:n.2291+4479del
ENST00000683680.1:c.2318+4479del	ENSP00000507223.1:n.2318+4479del
ENST00000684163.1:c.2204-7622del	ENSP00000508262.1:n.2204-7622del
ENST00000684196.1:n.4543-7622del
ENST00000684325.1:c.2186-15432del	ENSP00000508121.1:n.2186-15432del
ENST00000684385.1:c.2221-7622del	ENSP00000507855.1:n.2221-7622del
ENST00000684497.1:c.2186-14462del	ENSP00000507057.1:n.2186-14462del
ENST00000382292.9:c.6770del MANE Select	ENSP00000371729.3:p.Leu2257CysfsTer5
ENST00000423156.2:c.2186-7622del	ENSP00000390925.2:n.2186-7622del
ENST00000455470.6:c.2431+4339del	ENSP00000406565.2:n.2431+4339del
ENST00000382292.7:c.6770del	ENSP00000371729.3:p.Leu2257CysfsTer5
ENST00000382298.7:c.6770del	ENSP00000371735.3:p.Leu2257CysfsTer5
ENST00000402364.1:c.4520del	ENSP00000385844.1:p.Leu1507CysfsTer5
ENST00000423156.1:c.1058-7622del	ENSP00000390925.1:n.1058-7622del
ENST00000455470.5:c.2129+4339del
NM_001278055.1:c.6329del	NP_001264984.1:p.Leu2110CysfsTer5
NM_014363.5:c.6770del	NP_055178.3:p.Leu2257CysfsTer5
XM_005266338.1:c.6797del	XP_005266395.1:p.Leu2266CysfsTer5
XM_011535038.1:c.6821del	XP_011533340.1:p.Leu2274CysfsTer5
XM_011535039.1:c.6788del	XP_011533341.1:p.Leu2263CysfsTer5
XM_005266338.2:c.6797del	XP_005266395.1:p.Leu2266CysfsTer5
XM_011535039.2:c.6788del	XP_011533341.1:p.Leu2263CysfsTer5
XM_017020539.1:c.6761del	XP_016876028.1:p.Leu2254CysfsTer5
XM_024449337.1:c.6797del	XP_024305105.1:p.Leu2266CysfsTer5
NM_014363.6:c.6770del MANE Select	NP_055178.3:p.Leu2257CysfsTer5
NM_001278055.2:c.6329del	NP_001264984.1:p.Leu2110CysfsTer5