Canonical Allele Identifier: CA2078621444

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324553_23324555delinsCCT , CM000675.2:g.23324553_23324555delinsCCT	GRCh38
NC_000013.10:g.23898692_23898694delinsCCT , CM000675.1:g.23898692_23898694delinsCCT	GRCh37
NC_000013.9:g.22796692_22796694delinsCCT	NCBI36
NG_008759.1:g.148633_148635delinsCCT , LRG_207:g.148633_148635delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12440_2186-12438delinsAGG (SACS)	ENSP00000508399.1:n.2186-12440_2186-12438delinsAGG
ENST00000683210.1:c.2185+29230_2185+29232delinsAGG (SACS)	ENSP00000506739.1:n.2185+29230_2185+29232delinsAGG
ENST00000684325.1:c.2186-2881_2186-2879delinsAGG (SACS)	ENSP00000508121.1:n.2186-2881_2186-2879delinsAGG
ENST00000684497.1:c.2186-1911_2186-1909delinsAGG (SACS)	ENSP00000507057.1:n.2186-1911_2186-1909delinsAGG
ENST00000218867.4:c.*12_*14delinsCCT (SGCG) MANE Select	ENSP00000218867.3:n.*12_*14delinsCCT
ENST00000218867.3:c.*12_*14delinsCCT (SGCG)	ENSP00000218867.3:n.*12_*14delinsCCT
NM_000231.2:c.*12_*14delinsCCT , LRG_207t1:c.*12_*14delinsCCT (SGCG)	NP_000222.1:n.*12_*14delinsCCT
XM_005266505.2:c.*12_*14delinsCCT (SGCG)	XP_005266562.1:n.*12_*14delinsCCT
XM_006719861.2:c.*12_*14delinsCCT (SGCG)	XP_006719924.1:n.*12_*14delinsCCT
XM_006719861.3:c.*12_*14delinsCCT (SGCG)	XP_006719924.1:n.*12_*14delinsCCT
XM_024449397.1:c.*12_*14delinsCCT (SGCG)	XP_024305165.1:n.*12_*14delinsCCT
NM_000231.3:c.*12_*14delinsCCT (SGCG) MANE Select	NP_000222.2:n.*12_*14delinsCCT
NM_001378244.1:c.*12_*14delinsCCT (SGCG)	NP_001365173.1:n.*12_*14delinsCCT
NM_001378245.1:c.*12_*14delinsCCT (SGCG)	NP_001365174.1:n.*12_*14delinsCCT
NM_001378246.1:c.*12_*14delinsCCT (SGCG)	NP_001365175.1:n.*12_*14delinsCCT