Canonical Allele Identifier: CA2695199198

Gene: SACS SGCG

Linked Data

• ClinVar Variation Id: 2678705
• ClinVar RCV Id: RCV003472696

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324423dup , CM000675.2:g.23324423dup	GRCh38
NC_000013.10:g.23898562dup , CM000675.1:g.23898562dup	GRCh37
NC_000013.9:g.22796562dup	NCBI36
NG_008759.1:g.148503dup , LRG_207:g.148503dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-12305dup (SACS)	ENSP00000508399.1:n.2186-12305dup
ENST00000683210.1:c.2185+29365dup (SACS)	ENSP00000506739.1:n.2185+29365dup
ENST00000684325.1:c.2186-2746dup (SACS)	ENSP00000508121.1:n.2186-2746dup
ENST00000684497.1:c.2186-1776dup (SACS)	ENSP00000507057.1:n.2186-1776dup
ENST00000218867.4:c.758dup (SGCG) MANE Select	ENSP00000218867.3:p.Pro254SerfsTer?
ENST00000218867.3:c.758dup (SGCG)	ENSP00000218867.3:p.Pro254SerfsTer?
NM_000231.2:c.758dup , LRG_207t1:c.758dup (SGCG)	NP_000222.1:p.Pro254SerfsTer?
XM_005266505.2:c.758dup (SGCG)	XP_005266562.1:p.Pro254SerfsTer?
XM_006719861.2:c.812dup (SGCG)	XP_006719924.1:p.Pro272SerfsTer?
XM_006719861.3:c.812dup (SGCG)	XP_006719924.1:p.Pro272SerfsTer?
XM_024449397.1:c.758dup (SGCG)	XP_024305165.1:p.Pro254SerfsTer?
NM_000231.3:c.758dup (SGCG) MANE Select	NP_000222.2:p.Pro254SerfsTer?
NM_001378244.1:c.812dup (SGCG)	NP_001365173.1:p.Pro272SerfsTer?
NM_001378245.1:c.758dup (SGCG)	NP_001365174.1:p.Pro254SerfsTer?
NM_001378246.1:c.758dup (SGCG)	NP_001365175.1:p.Pro254SerfsTer?