Canonical Allele Identifier: CA2573149098

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 1400512
• ClinVar RCV Id: RCV001932746

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324370_23324371delinsCA , CM000675.2:g.23324370_23324371delinsCA	GRCh38
NC_000013.10:g.23898509_23898510delinsCA , CM000675.1:g.23898509_23898510delinsCA	GRCh37
NC_000013.9:g.22796509_22796510delinsCA	NCBI36
NG_008759.1:g.148450_148451delinsCA , LRG_207:g.148450_148451delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12256_2186-12255delinsTG (SACS)	ENSP00000508399.1:n.2186-12256_2186-12255delinsTG
ENST00000683210.1:c.2185+29414_2185+29415delinsTG (SACS)	ENSP00000506739.1:n.2185+29414_2185+29415delinsTG
ENST00000684325.1:c.2186-2697_2186-2696delinsTG (SACS)	ENSP00000508121.1:n.2186-2697_2186-2696delinsTG
ENST00000684497.1:c.2186-1727_2186-1726delinsTG (SACS)	ENSP00000507057.1:n.2186-1727_2186-1726delinsTG
ENST00000218867.4:c.705_706delinsCA (SGCG) MANE Select	ENSP00000218867.3:p.Val236Met
ENST00000218867.3:c.705_706delinsCA (SGCG)	ENSP00000218867.3:p.Val236Met
NM_000231.2:c.705_706delinsCA , LRG_207t1:c.705_706delinsCA (SGCG)	NP_000222.1:p.Val236Met
XM_005266505.2:c.705_706delinsCA (SGCG)	XP_005266562.1:p.Val236Met
XM_006719861.2:c.759_760delinsCA (SGCG)	XP_006719924.1:p.Val254Met
XM_006719861.3:c.759_760delinsCA (SGCG)	XP_006719924.1:p.Val254Met
XM_024449397.1:c.705_706delinsCA (SGCG)	XP_024305165.1:p.Val236Met
NM_000231.3:c.705_706delinsCA (SGCG) MANE Select	NP_000222.2:p.Val236Met
NM_001378244.1:c.759_760delinsCA (SGCG)	NP_001365173.1:p.Val254Met
NM_001378245.1:c.705_706delinsCA (SGCG)	NP_001365174.1:p.Val236Met
NM_001378246.1:c.705_706delinsCA (SGCG)	NP_001365175.1:p.Val236Met