Canonical Allele Identifier: CA6910779

Gene: SACS

Linked Data

• ClinVar Variation Id: 817704
• ClinVar RCV Id: RCV001008913 ; RCV003473557
• dbSNP Id: rs753958013
• ExAC: 13:23909674 GA / G
• MyVariant Identifiers: chr13:g.23909675del (hg19) ; chr13:g.23335536del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335538del , CM000675.2:g.23335538del	GRCh38
NC_000013.10:g.23909677del , CM000675.1:g.23909677del	GRCh37
NC_000013.9:g.22807677del	NCBI36
NG_012342.1:g.103167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18249del	ENSP00000508399.1:n.2185+18249del
ENST00000682944.1:c.8367del	ENSP00000507173.1:p.His2790MetfsTer4
ENST00000683210.1:c.2185+18249del	ENSP00000506739.1:n.2185+18249del
ENST00000683270.1:c.6445+1886del	ENSP00000507624.1:n.6445+1886del
ENST00000683367.1:c.2177-6052del	ENSP00000507780.1:n.2177-6052del
ENST00000683489.1:c.2292-5584del	ENSP00000508403.1:n.2292-5584del
ENST00000683680.1:c.2319-5584del	ENSP00000507223.1:n.2319-5584del
ENST00000684163.1:c.2204-6052del	ENSP00000508262.1:n.2204-6052del
ENST00000684196.1:n.4543-6052del
ENST00000684325.1:c.2186-13862del	ENSP00000508121.1:n.2186-13862del
ENST00000684385.1:c.2221-6052del	ENSP00000507855.1:n.2221-6052del
ENST00000684497.1:c.2186-12892del	ENSP00000507057.1:n.2186-12892del
ENST00000382292.9:c.8340del MANE Select	ENSP00000371729.3:p.His2781MetfsTer4
ENST00000423156.2:c.2186-6052del	ENSP00000390925.2:n.2186-6052del
ENST00000455470.6:c.2431+5909del	ENSP00000406565.2:n.2431+5909del
ENST00000382292.7:c.8340del	ENSP00000371729.3:p.His2781MetfsTer4
ENST00000382298.7:c.8340del	ENSP00000371735.3:p.His2781MetfsTer4
ENST00000402364.1:c.6090del	ENSP00000385844.1:p.His2031MetfsTer4
ENST00000423156.1:c.1058-6052del	ENSP00000390925.1:n.1058-6052del
ENST00000455470.5:c.2129+5909del
NM_001278055.1:c.7899del	NP_001264984.1:p.His2634MetfsTer4
NM_014363.5:c.8340del	NP_055178.3:p.His2781MetfsTer4
XM_005266338.1:c.8367del	XP_005266395.1:p.His2790MetfsTer4
XM_011535038.1:c.8391del	XP_011533340.1:p.His2798MetfsTer4
XM_011535039.1:c.8358del	XP_011533341.1:p.His2787MetfsTer4
XM_005266338.2:c.8367del	XP_005266395.1:p.His2790MetfsTer4
XM_011535039.2:c.8358del	XP_011533341.1:p.His2787MetfsTer4
XM_017020539.1:c.8331del	XP_016876028.1:p.His2778MetfsTer4
XM_024449337.1:c.8367del	XP_024305105.1:p.His2790MetfsTer4
NM_014363.6:c.8340del MANE Select	NP_055178.3:p.His2781MetfsTer4
NM_001278055.2:c.7899del	NP_001264984.1:p.His2634MetfsTer4