Canonical Allele Identifier: CA2078621467

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324558_23324561delinsCGGT , CM000675.2:g.23324558_23324561delinsCGGT	GRCh38
NC_000013.10:g.23898697_23898700delinsCGGT , CM000675.1:g.23898697_23898700delinsCGGT	GRCh37
NC_000013.9:g.22796697_22796700delinsCGGT	NCBI36
NG_008759.1:g.148638_148641delinsCGGT , LRG_207:g.148638_148641delinsCGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12446_2186-12443delinsACCG (SACS)	ENSP00000508399.1:n.2186-12446_2186-12443delinsACCG
ENST00000683210.1:c.2185+29224_2185+29227delinsACCG (SACS)	ENSP00000506739.1:n.2185+29224_2185+29227delinsACCG
ENST00000684325.1:c.2186-2887_2186-2884delinsACCG (SACS)	ENSP00000508121.1:n.2186-2887_2186-2884delinsACCG
ENST00000684497.1:c.2186-1917_2186-1914delinsACCG (SACS)	ENSP00000507057.1:n.2186-1917_2186-1914delinsACCG
ENST00000218867.4:c.*17_*20delinsCGGT (SGCG) MANE Select	ENSP00000218867.3:n.*17_*20delinsCGGT
ENST00000218867.3:c.*17_*20delinsCGGT (SGCG)	ENSP00000218867.3:n.*17_*20delinsCGGT
NM_000231.2:c.*17_*20delinsCGGT , LRG_207t1:c.*17_*20delinsCGGT (SGCG)	NP_000222.1:n.*17_*20delinsCGGT
XM_005266505.2:c.*17_*20delinsCGGT (SGCG)	XP_005266562.1:n.*17_*20delinsCGGT
XM_006719861.2:c.*17_*20delinsCGGT (SGCG)	XP_006719924.1:n.*17_*20delinsCGGT
XM_006719861.3:c.*17_*20delinsCGGT (SGCG)	XP_006719924.1:n.*17_*20delinsCGGT
XM_024449397.1:c.*17_*20delinsCGGT (SGCG)	XP_024305165.1:n.*17_*20delinsCGGT
NM_000231.3:c.*17_*20delinsCGGT (SGCG) MANE Select	NP_000222.2:n.*17_*20delinsCGGT
NM_001378244.1:c.*17_*20delinsCGGT (SGCG)	NP_001365173.1:n.*17_*20delinsCGGT
NM_001378245.1:c.*17_*20delinsCGGT (SGCG)	NP_001365174.1:n.*17_*20delinsCGGT
NM_001378246.1:c.*17_*20delinsCGGT (SGCG)	NP_001365175.1:n.*17_*20delinsCGGT