Canonical Allele Identifier: CA608985313

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 555584
• ClinVar RCV Id: RCV000671426
• dbSNP Id: rs1199421806
• gnomAD v2: 13-23898571-GC-G
• gnomAD v4: 13-23324432-GC-G
• MyVariant Identifiers: chr13:g.23898572del (hg19) ; chr13:g.23324433del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324433del , CM000675.2:g.23324433del	GRCh38
NC_000013.10:g.23898572del , CM000675.1:g.23898572del	GRCh37
NC_000013.9:g.22796572del	NCBI36
NG_008759.1:g.148513del , LRG_207:g.148513del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-12318del (SACS)	ENSP00000508399.1:n.2186-12318del
ENST00000683210.1:c.2185+29352del (SACS)	ENSP00000506739.1:n.2185+29352del
ENST00000684325.1:c.2186-2759del (SACS)	ENSP00000508121.1:n.2186-2759del
ENST00000684497.1:c.2186-1789del (SACS)	ENSP00000507057.1:n.2186-1789del
ENST00000218867.4:c.768del (SGCG) MANE Select	ENSP00000218867.3:p.Ser257AlafsTer23
ENST00000218867.3:c.768del (SGCG)	ENSP00000218867.3:p.Ser257AlafsTer23
NM_000231.2:c.768del , LRG_207t1:c.768del (SGCG)	NP_000222.1:p.Ser257AlafsTer23
XM_005266505.2:c.768del (SGCG)	XP_005266562.1:p.Ser257AlafsTer23
XM_006719861.2:c.822del (SGCG)	XP_006719924.1:p.Ser275AlafsTer23
XM_006719861.3:c.822del (SGCG)	XP_006719924.1:p.Ser275AlafsTer23
XM_024449397.1:c.768del (SGCG)	XP_024305165.1:p.Ser257AlafsTer23
NM_000231.3:c.768del (SGCG) MANE Select	NP_000222.2:p.Ser257AlafsTer23
NM_001378244.1:c.822del (SGCG)	NP_001365173.1:p.Ser275AlafsTer23
NM_001378245.1:c.768del (SGCG)	NP_001365174.1:p.Ser257AlafsTer23
NM_001378246.1:c.768del (SGCG)	NP_001365175.1:p.Ser257AlafsTer23