Canonical Allele Identifier: CA16041636

Gene: SACS

Linked Data

• ClinVar Variation Id: 370168
• ClinVar RCV Id: RCV000409566
• dbSNP Id: rs1057516285
• MyVariant Identifiers: chr13:g.23913255del (hg19) ; chr13:g.23339116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339116del , CM000675.2:g.23339116del	GRCh38
NC_000013.10:g.23913255del , CM000675.1:g.23913255del	GRCh37
NC_000013.9:g.22811255del	NCBI36
NG_012342.1:g.99587del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14669del	ENSP00000508399.1:n.2185+14669del
ENST00000682944.1:c.4787del	ENSP00000507173.1:p.His1596LeufsTer?
ENST00000683210.1:c.2185+14669del	ENSP00000506739.1:n.2185+14669del
ENST00000683270.1:c.4751del	ENSP00000507624.1:p.His1584LeufsTer?
ENST00000683367.1:c.2177-9632del	ENSP00000507780.1:n.2177-9632del
ENST00000683489.1:c.2291+2469del	ENSP00000508403.1:n.2291+2469del
ENST00000683680.1:c.2318+2469del	ENSP00000507223.1:n.2318+2469del
ENST00000684163.1:c.2203+7695del	ENSP00000508262.1:n.2203+7695del
ENST00000684196.1:n.4543-9632del
ENST00000684325.1:c.2185+14669del	ENSP00000508121.1:n.2185+14669del
ENST00000684385.1:c.2220+7695del	ENSP00000507855.1:n.2220+7695del
ENST00000684497.1:c.2185+14669del	ENSP00000507057.1:n.2185+14669del
ENST00000382292.9:c.4760del MANE Select	ENSP00000371729.3:p.His1587LeufsTer?
ENST00000423156.2:c.2186-9632del	ENSP00000390925.2:n.2186-9632del
ENST00000455470.6:c.2431+2329del	ENSP00000406565.2:n.2431+2329del
ENST00000382292.7:c.4760del	ENSP00000371729.3:p.His1587LeufsTer?
ENST00000382298.7:c.4760del	ENSP00000371735.3:p.His1587LeufsTer?
ENST00000402364.1:c.2510del	ENSP00000385844.1:p.His837LeufsTer?
ENST00000423156.1:c.1058-9632del	ENSP00000390925.1:n.1058-9632del
ENST00000455470.5:c.2129+2329del
NM_001278055.1:c.4319del	NP_001264984.1:p.His1440LeufsTer?
NM_014363.5:c.4760del	NP_055178.3:p.His1587LeufsTer?
XM_005266338.1:c.4787del	XP_005266395.1:p.His1596LeufsTer?
XM_011535038.1:c.4811del	XP_011533340.1:p.His1604LeufsTer?
XM_011535039.1:c.4778del	XP_011533341.1:p.His1593LeufsTer?
XM_005266338.2:c.4787del	XP_005266395.1:p.His1596LeufsTer?
XM_011535039.2:c.4778del	XP_011533341.1:p.His1593LeufsTer?
XM_017020539.1:c.4751del	XP_016876028.1:p.His1584LeufsTer?
XM_024449337.1:c.4787del	XP_024305105.1:p.His1596LeufsTer?
NM_014363.6:c.4760del MANE Select	NP_055178.3:p.His1587LeufsTer?
NM_001278055.2:c.4319del	NP_001264984.1:p.His1440LeufsTer?