Canonical Allele Identifier: CA2580614625

Gene: SACS

Linked Data

• ClinVar Variation Id: 1679374
• ClinVar RCV Id: RCV002226971
• dbSNP Id: rs2137599071

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336302_23336305del , CM000675.2:g.23336302_23336305del	GRCh38
NC_000013.10:g.23910441_23910444del , CM000675.1:g.23910441_23910444del	GRCh37
NC_000013.9:g.22808441_22808444del	NCBI36
NG_012342.1:g.102403_102406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17485_2185+17488del	ENSP00000508399.1:n.2185+17485_2185+17488del
ENST00000682944.1:c.7603_7606del	ENSP00000507173.1:p.Glu2535AsnfsTer2
ENST00000683210.1:c.2185+17485_2185+17488del	ENSP00000506739.1:n.2185+17485_2185+17488del
ENST00000683270.1:c.6445+1122_6445+1125del	ENSP00000507624.1:n.6445+1122_6445+1125del
ENST00000683367.1:c.2177-6816_2177-6813del	ENSP00000507780.1:n.2177-6816_2177-6813del
ENST00000683489.1:c.2291+5285_2291+5288del	ENSP00000508403.1:n.2291+5285_2291+5288del
ENST00000683680.1:c.2318+5285_2318+5288del	ENSP00000507223.1:n.2318+5285_2318+5288del
ENST00000684163.1:c.2204-6816_2204-6813del	ENSP00000508262.1:n.2204-6816_2204-6813del
ENST00000684196.1:n.4543-6816_4543-6813del
ENST00000684325.1:c.2186-14626_2186-14623del	ENSP00000508121.1:n.2186-14626_2186-14623del
ENST00000684385.1:c.2221-6816_2221-6813del	ENSP00000507855.1:n.2221-6816_2221-6813del
ENST00000684497.1:c.2186-13656_2186-13653del	ENSP00000507057.1:n.2186-13656_2186-13653del
ENST00000382292.9:c.7576_7579del MANE Select	ENSP00000371729.3:p.Glu2526AsnfsTer2
ENST00000423156.2:c.2186-6816_2186-6813del	ENSP00000390925.2:n.2186-6816_2186-6813del
ENST00000455470.6:c.2431+5145_2431+5148del	ENSP00000406565.2:n.2431+5145_2431+5148del
ENST00000382292.7:c.7576_7579del	ENSP00000371729.3:p.Glu2526AsnfsTer2
ENST00000382298.7:c.7576_7579del	ENSP00000371735.3:p.Glu2526AsnfsTer2
ENST00000402364.1:c.5326_5329del	ENSP00000385844.1:p.Glu1776AsnfsTer2
ENST00000423156.1:c.1058-6816_1058-6813del	ENSP00000390925.1:n.1058-6816_1058-6813del
ENST00000455470.5:c.2129+5145_2129+5148del
NM_001278055.1:c.7135_7138del	NP_001264984.1:p.Glu2379AsnfsTer2
NM_014363.5:c.7576_7579del	NP_055178.3:p.Glu2526AsnfsTer2
XM_005266338.1:c.7603_7606del	XP_005266395.1:p.Glu2535AsnfsTer2
XM_011535038.1:c.7627_7630del	XP_011533340.1:p.Glu2543AsnfsTer2
XM_011535039.1:c.7594_7597del	XP_011533341.1:p.Glu2532AsnfsTer2
XM_005266338.2:c.7603_7606del	XP_005266395.1:p.Glu2535AsnfsTer2
XM_011535039.2:c.7594_7597del	XP_011533341.1:p.Glu2532AsnfsTer2
XM_017020539.1:c.7567_7570del	XP_016876028.1:p.Glu2523AsnfsTer2
XM_024449337.1:c.7603_7606del	XP_024305105.1:p.Glu2535AsnfsTer2
NM_014363.6:c.7576_7579del MANE Select	NP_055178.3:p.Glu2526AsnfsTer2
NM_001278055.2:c.7135_7138del	NP_001264984.1:p.Glu2379AsnfsTer2