Canonical Allele Identifier: CA2573149147

Gene: SACS

Linked Data

• ClinVar Variation Id: 1460037
• ClinVar RCV Id: RCV001951390
• dbSNP Id: rs2137616213

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338133_23338134del , CM000675.2:g.23338133_23338134del	GRCh38
NC_000013.10:g.23912272_23912273del , CM000675.1:g.23912272_23912273del	GRCh37
NC_000013.9:g.22810272_22810273del	NCBI36
NG_012342.1:g.100570_100571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15652_2185+15653del	ENSP00000508399.1:n.2185+15652_2185+15653del
ENST00000682944.1:c.5770_5771del	ENSP00000507173.1:p.His1924CysfsTer19
ENST00000683210.1:c.2185+15652_2185+15653del	ENSP00000506739.1:n.2185+15652_2185+15653del
ENST00000683270.1:c.5734_5735del	ENSP00000507624.1:p.His1912CysfsTer19
ENST00000683367.1:c.2177-8649_2177-8648del	ENSP00000507780.1:n.2177-8649_2177-8648del
ENST00000683489.1:c.2291+3452_2291+3453del	ENSP00000508403.1:n.2291+3452_2291+3453del
ENST00000683680.1:c.2318+3452_2318+3453del	ENSP00000507223.1:n.2318+3452_2318+3453del
ENST00000684163.1:c.2204-8649_2204-8648del	ENSP00000508262.1:n.2204-8649_2204-8648del
ENST00000684196.1:n.4543-8649_4543-8648del
ENST00000684325.1:c.2185+15652_2185+15653del	ENSP00000508121.1:n.2185+15652_2185+15653del
ENST00000684385.1:c.2221-8649_2221-8648del	ENSP00000507855.1:n.2221-8649_2221-8648del
ENST00000684497.1:c.2186-15489_2186-15488del	ENSP00000507057.1:n.2186-15489_2186-15488del
ENST00000382292.9:c.5743_5744del MANE Select	ENSP00000371729.3:p.His1915CysfsTer19
ENST00000423156.2:c.2186-8649_2186-8648del	ENSP00000390925.2:n.2186-8649_2186-8648del
ENST00000455470.6:c.2431+3312_2431+3313del	ENSP00000406565.2:n.2431+3312_2431+3313del
ENST00000382292.7:c.5743_5744del	ENSP00000371729.3:p.His1915CysfsTer19
ENST00000382298.7:c.5743_5744del	ENSP00000371735.3:p.His1915CysfsTer19
ENST00000402364.1:c.3493_3494del	ENSP00000385844.1:p.His1165CysfsTer19
ENST00000423156.1:c.1058-8649_1058-8648del	ENSP00000390925.1:n.1058-8649_1058-8648del
ENST00000455470.5:c.2129+3312_2129+3313del
NM_001278055.1:c.5302_5303del	NP_001264984.1:p.His1768CysfsTer19
NM_014363.5:c.5743_5744del	NP_055178.3:p.His1915CysfsTer19
XM_005266338.1:c.5770_5771del	XP_005266395.1:p.His1924CysfsTer19
XM_011535038.1:c.5794_5795del	XP_011533340.1:p.His1932CysfsTer19
XM_011535039.1:c.5761_5762del	XP_011533341.1:p.His1921CysfsTer19
XM_005266338.2:c.5770_5771del	XP_005266395.1:p.His1924CysfsTer19
XM_011535039.2:c.5761_5762del	XP_011533341.1:p.His1921CysfsTer19
XM_017020539.1:c.5734_5735del	XP_016876028.1:p.His1912CysfsTer19
XM_024449337.1:c.5770_5771del	XP_024305105.1:p.His1924CysfsTer19
NM_014363.6:c.5743_5744del MANE Select	NP_055178.3:p.His1915CysfsTer19
NM_001278055.2:c.5302_5303del	NP_001264984.1:p.His1768CysfsTer19