Canonical Allele Identifier: CA658823549

Gene: SACS

Linked Data

• ClinVar Variation Id: 557488
• ClinVar RCV Id: RCV000673637
• dbSNP Id: rs1555251960
• MyVariant Identifiers: chr13:g.23337875_23337877del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337876_23337878del , CM000675.2:g.23337876_23337878del	GRCh38
NC_000013.10:g.23912015_23912017del , CM000675.1:g.23912015_23912017del	GRCh37
NC_000013.9:g.22810015_22810017del	NCBI36
NG_012342.1:g.100826_100828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15908_2185+15910del	ENSP00000508399.1:n.2185+15908_2185+15910del
ENST00000682944.1:c.6026_6028del	ENSP00000507173.1:p.Lys2009del
ENST00000683210.1:c.2185+15908_2185+15910del	ENSP00000506739.1:n.2185+15908_2185+15910del
ENST00000683270.1:c.5990_5992del	ENSP00000507624.1:p.Lys1997del
ENST00000683367.1:c.2177-8393_2177-8391del	ENSP00000507780.1:n.2177-8393_2177-8391del
ENST00000683489.1:c.2291+3708_2291+3710del	ENSP00000508403.1:n.2291+3708_2291+3710del
ENST00000683680.1:c.2318+3708_2318+3710del	ENSP00000507223.1:n.2318+3708_2318+3710del
ENST00000684163.1:c.2204-8393_2204-8391del	ENSP00000508262.1:n.2204-8393_2204-8391del
ENST00000684196.1:n.4543-8393_4543-8391del
ENST00000684325.1:c.2185+15908_2185+15910del	ENSP00000508121.1:n.2185+15908_2185+15910del
ENST00000684385.1:c.2221-8393_2221-8391del	ENSP00000507855.1:n.2221-8393_2221-8391del
ENST00000684497.1:c.2186-15233_2186-15231del	ENSP00000507057.1:n.2186-15233_2186-15231del
ENST00000382292.9:c.5999_6001del MANE Select	ENSP00000371729.3:p.Lys2000del
ENST00000423156.2:c.2186-8393_2186-8391del	ENSP00000390925.2:n.2186-8393_2186-8391del
ENST00000455470.6:c.2431+3568_2431+3570del	ENSP00000406565.2:n.2431+3568_2431+3570del
ENST00000382292.7:c.5999_6001del	ENSP00000371729.3:p.Lys2000del
ENST00000382298.7:c.5999_6001del	ENSP00000371735.3:p.Lys2000del
ENST00000402364.1:c.3749_3751del	ENSP00000385844.1:p.Lys1250del
ENST00000423156.1:c.1058-8393_1058-8391del	ENSP00000390925.1:n.1058-8393_1058-8391del
ENST00000455470.5:c.2129+3568_2129+3570del
NM_001278055.1:c.5558_5560del	NP_001264984.1:p.Lys1853del
NM_014363.5:c.5999_6001del	NP_055178.3:p.Lys2000del
XM_005266338.1:c.6026_6028del	XP_005266395.1:p.Lys2009del
XM_011535038.1:c.6050_6052del	XP_011533340.1:p.Lys2017del
XM_011535039.1:c.6017_6019del	XP_011533341.1:p.Lys2006del
XM_005266338.2:c.6026_6028del	XP_005266395.1:p.Lys2009del
XM_011535039.2:c.6017_6019del	XP_011533341.1:p.Lys2006del
XM_017020539.1:c.5990_5992del	XP_016876028.1:p.Lys1997del
XM_024449337.1:c.6026_6028del	XP_024305105.1:p.Lys2009del
NM_014363.6:c.5999_6001del MANE Select	NP_055178.3:p.Lys2000del
NM_001278055.2:c.5558_5560del	NP_001264984.1:p.Lys1853del