Canonical Allele Identifier: CA2580614613

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 1455016
• ClinVar RCV Id: RCV001939644
• dbSNP Id: rs2137534154

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324440_23324441del , CM000675.2:g.23324440_23324441del	GRCh38
NC_000013.10:g.23898579_23898580del , CM000675.1:g.23898579_23898580del	GRCh37
NC_000013.9:g.22796579_22796580del	NCBI36
NG_008759.1:g.148520_148521del , LRG_207:g.148520_148521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12324_2186-12323del (SACS)	ENSP00000508399.1:n.2186-12324_2186-12323del
ENST00000683210.1:c.2185+29346_2185+29347del (SACS)	ENSP00000506739.1:n.2185+29346_2185+29347del
ENST00000684325.1:c.2186-2765_2186-2764del (SACS)	ENSP00000508121.1:n.2186-2765_2186-2764del
ENST00000684497.1:c.2186-1795_2186-1794del (SACS)	ENSP00000507057.1:n.2186-1795_2186-1794del
ENST00000218867.4:c.775_776del (SGCG) MANE Select	ENSP00000218867.3:p.Gln259GlufsTer?
ENST00000218867.3:c.775_776del (SGCG)	ENSP00000218867.3:p.Gln259GlufsTer?
NM_000231.2:c.775_776del , LRG_207t1:c.775_776del (SGCG)	NP_000222.1:p.Gln259GlufsTer?
XM_005266505.2:c.775_776del (SGCG)	XP_005266562.1:p.Gln259GlufsTer?
XM_006719861.2:c.829_830del (SGCG)	XP_006719924.1:p.Gln277GlufsTer?
XM_006719861.3:c.829_830del (SGCG)	XP_006719924.1:p.Gln277GlufsTer?
XM_024449397.1:c.775_776del (SGCG)	XP_024305165.1:p.Gln259GlufsTer?
NM_000231.3:c.775_776del (SGCG) MANE Select	NP_000222.2:p.Gln259GlufsTer?
NM_001378244.1:c.829_830del (SGCG)	NP_001365173.1:p.Gln277GlufsTer?
NM_001378245.1:c.775_776del (SGCG)	NP_001365174.1:p.Gln259GlufsTer?
NM_001378246.1:c.775_776del (SGCG)	NP_001365175.1:p.Gln259GlufsTer?