Canonical Allele Identifier: CA6911356

Gene: SACS

Linked Data

• dbSNP Id: rs750483641
• ExAC: 13:23913321 TG / T
• gnomAD v2: 13-23913321-TG-T
• gnomAD v4: 13-23339182-TG-T
• MyVariant Identifiers: chr13:g.23913322del (hg19) ; chr13:g.23339184del (hg38) ; chr13:g.23339183del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339184del , CM000675.2:g.23339184del	GRCh38
NC_000013.10:g.23913323del , CM000675.1:g.23913323del	GRCh37
NC_000013.9:g.22811323del	NCBI36
NG_012342.1:g.99520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14602del	ENSP00000508399.1:n.2185+14602del
ENST00000682944.1:c.4720del	ENSP00000507173.1:p.His1574IlefsTer9
ENST00000683210.1:c.2185+14602del	ENSP00000506739.1:n.2185+14602del
ENST00000683270.1:c.4684del	ENSP00000507624.1:p.His1562IlefsTer9
ENST00000683367.1:c.2177-9699del	ENSP00000507780.1:n.2177-9699del
ENST00000683489.1:c.2291+2402del	ENSP00000508403.1:n.2291+2402del
ENST00000683680.1:c.2318+2402del	ENSP00000507223.1:n.2318+2402del
ENST00000684163.1:c.2203+7628del	ENSP00000508262.1:n.2203+7628del
ENST00000684196.1:n.4543-9699del
ENST00000684325.1:c.2185+14602del	ENSP00000508121.1:n.2185+14602del
ENST00000684385.1:c.2220+7628del	ENSP00000507855.1:n.2220+7628del
ENST00000684497.1:c.2185+14602del	ENSP00000507057.1:n.2185+14602del
ENST00000382292.9:c.4693del MANE Select	ENSP00000371729.3:p.His1565IlefsTer9
ENST00000423156.2:c.2186-9699del	ENSP00000390925.2:n.2186-9699del
ENST00000455470.6:c.2431+2262del	ENSP00000406565.2:n.2431+2262del
ENST00000382292.7:c.4693del	ENSP00000371729.3:p.His1565IlefsTer9
ENST00000382298.7:c.4693del	ENSP00000371735.3:p.His1565IlefsTer9
ENST00000402364.1:c.2443del	ENSP00000385844.1:p.His815IlefsTer9
ENST00000423156.1:c.1058-9699del	ENSP00000390925.1:n.1058-9699del
ENST00000455470.5:c.2129+2262del
NM_001278055.1:c.4252del	NP_001264984.1:p.His1418IlefsTer9
NM_014363.5:c.4693del	NP_055178.3:p.His1565IlefsTer9
XM_005266338.1:c.4720del	XP_005266395.1:p.His1574IlefsTer9
XM_011535038.1:c.4744del	XP_011533340.1:p.His1582IlefsTer9
XM_011535039.1:c.4711del	XP_011533341.1:p.His1571IlefsTer9
XM_005266338.2:c.4720del	XP_005266395.1:p.His1574IlefsTer9
XM_011535039.2:c.4711del	XP_011533341.1:p.His1571IlefsTer9
XM_017020539.1:c.4684del	XP_016876028.1:p.His1562IlefsTer9
XM_024449337.1:c.4720del	XP_024305105.1:p.His1574IlefsTer9
NM_014363.6:c.4693del MANE Select	NP_055178.3:p.His1565IlefsTer9
NM_001278055.2:c.4252del	NP_001264984.1:p.His1418IlefsTer9