Canonical Allele Identifier: CA346891

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 198699
• ClinVar RCV Id: RCV000180113
• dbSNP Id: rs797044783
• gnomAD v4: 13-23324397-A-AC
• MyVariant Identifiers: chr13:g.23898539dupC (hg19) ; chr13:g.23324400dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324400dup , CM000675.2:g.23324400dup	GRCh38
NC_000013.10:g.23898539dup , CM000675.1:g.23898539dup	GRCh37
NC_000013.9:g.22796539dup	NCBI36
NG_008759.1:g.148480dup , LRG_207:g.148480dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12283dup (SACS)	ENSP00000508399.1:n.2186-12283dup
ENST00000683210.1:c.2185+29387dup (SACS)	ENSP00000506739.1:n.2185+29387dup
ENST00000684325.1:c.2186-2724dup (SACS)	ENSP00000508121.1:n.2186-2724dup
ENST00000684497.1:c.2186-1754dup (SACS)	ENSP00000507057.1:n.2186-1754dup
ENST00000218867.4:c.735dup (SGCG) MANE Select	ENSP00000218867.3:p.Lys246GlnfsTer?
ENST00000218867.3:c.735dup (SGCG)	ENSP00000218867.3:p.Lys246GlnfsTer?
NM_000231.2:c.735dup , LRG_207t1:c.735dup (SGCG)	NP_000222.1:p.Lys246GlnfsTer?
XM_005266505.2:c.735dup (SGCG)	XP_005266562.1:p.Lys246GlnfsTer?
XM_006719861.2:c.789dup (SGCG)	XP_006719924.1:p.Lys264GlnfsTer?
XM_006719861.3:c.789dup (SGCG)	XP_006719924.1:p.Lys264GlnfsTer?
XM_024449397.1:c.735dup (SGCG)	XP_024305165.1:p.Lys246GlnfsTer?
NM_000231.3:c.735dup (SGCG) MANE Select	NP_000222.2:p.Lys246GlnfsTer?
NM_001378244.1:c.789dup (SGCG)	NP_001365173.1:p.Lys264GlnfsTer?
NM_001378245.1:c.735dup (SGCG)	NP_001365174.1:p.Lys246GlnfsTer?
NM_001378246.1:c.735dup (SGCG)	NP_001365175.1:p.Lys246GlnfsTer?