Canonical Allele Identifier: CA2580086817

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 2063856
• ClinVar RCV Id: RCV002943016

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324465_23324466delinsCC , CM000675.2:g.23324465_23324466delinsCC	GRCh38
NC_000013.10:g.23898604_23898605delinsCC , CM000675.1:g.23898604_23898605delinsCC	GRCh37
NC_000013.9:g.22796604_22796605delinsCC	NCBI36
NG_008759.1:g.148545_148546delinsCC , LRG_207:g.148545_148546delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12351_2186-12350delinsGG (SACS)	ENSP00000508399.1:n.2186-12351_2186-12350delinsGG
ENST00000683210.1:c.2185+29319_2185+29320delinsGG (SACS)	ENSP00000506739.1:n.2185+29319_2185+29320delinsGG
ENST00000684325.1:c.2186-2792_2186-2791delinsGG (SACS)	ENSP00000508121.1:n.2186-2792_2186-2791delinsGG
ENST00000684497.1:c.2186-1822_2186-1821delinsGG (SACS)	ENSP00000507057.1:n.2186-1822_2186-1821delinsGG
ENST00000218867.4:c.800_801delinsCC (SGCG) MANE Select	ENSP00000218867.3:p.Cys267Ser
ENST00000218867.3:c.800_801delinsCC (SGCG)	ENSP00000218867.3:p.Cys267Ser
NM_000231.2:c.800_801delinsCC , LRG_207t1:c.800_801delinsCC (SGCG)	NP_000222.1:p.Cys267Ser
XM_005266505.2:c.800_801delinsCC (SGCG)	XP_005266562.1:p.Cys267Ser
XM_006719861.2:c.854_855delinsCC (SGCG)	XP_006719924.1:p.Cys285Ser
XM_006719861.3:c.854_855delinsCC (SGCG)	XP_006719924.1:p.Cys285Ser
XM_024449397.1:c.800_801delinsCC (SGCG)	XP_024305165.1:p.Cys267Ser
NM_000231.3:c.800_801delinsCC (SGCG) MANE Select	NP_000222.2:p.Cys267Ser
NM_001378244.1:c.854_855delinsCC (SGCG)	NP_001365173.1:p.Cys285Ser
NM_001378245.1:c.800_801delinsCC (SGCG)	NP_001365174.1:p.Cys267Ser
NM_001378246.1:c.800_801delinsCC (SGCG)	NP_001365175.1:p.Cys267Ser