Canonical Allele Identifier: CA2078621558

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324597_23324602delinsAGGGAG , CM000675.2:g.23324597_23324602delinsAGGGAG	GRCh38
NC_000013.10:g.23898736_23898741delinsAGGGAG , CM000675.1:g.23898736_23898741delinsAGGGAG	GRCh37
NC_000013.9:g.22796736_22796741delinsAGGGAG	NCBI36
NG_008759.1:g.148677_148682delinsAGGGAG , LRG_207:g.148677_148682delinsAGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12487_2186-12482delinsCTCCCT (SACS)	ENSP00000508399.1:n.2186-12487_2186-12482delinsCTCCCT
ENST00000683210.1:c.2185+29183_2185+29188delinsCTCCCT (SACS)	ENSP00000506739.1:n.2185+29183_2185+29188delinsCTCCCT
ENST00000684325.1:c.2186-2928_2186-2923delinsCTCCCT (SACS)	ENSP00000508121.1:n.2186-2928_2186-2923delinsCTCCCT
ENST00000684497.1:c.2186-1958_2186-1953delinsCTCCCT (SACS)	ENSP00000507057.1:n.2186-1958_2186-1953delinsCTCCCT
ENST00000218867.4:c.*56_*61delinsAGGGAG (SGCG) MANE Select	ENSP00000218867.3:n.*56_*61delinsAGGGAG
ENST00000218867.3:c.*56_*61delinsAGGGAG (SGCG)	ENSP00000218867.3:n.*56_*61delinsAGGGAG
NM_000231.2:c.*56_*61delinsAGGGAG , LRG_207t1:c.*56_*61delinsAGGGAG (SGCG)	NP_000222.1:n.*56_*61delinsAGGGAG
XM_005266505.2:c.*56_*61delinsAGGGAG (SGCG)	XP_005266562.1:n.*56_*61delinsAGGGAG
XM_006719861.2:c.*56_*61delinsAGGGAG (SGCG)	XP_006719924.1:n.*56_*61delinsAGGGAG
XM_006719861.3:c.*56_*61delinsAGGGAG (SGCG)	XP_006719924.1:n.*56_*61delinsAGGGAG
XM_024449397.1:c.*56_*61delinsAGGGAG (SGCG)	XP_024305165.1:n.*56_*61delinsAGGGAG
NM_000231.3:c.*56_*61delinsAGGGAG (SGCG) MANE Select	NP_000222.2:n.*56_*61delinsAGGGAG
NM_001378244.1:c.*56_*61delinsAGGGAG (SGCG)	NP_001365173.1:n.*56_*61delinsAGGGAG
NM_001378245.1:c.*56_*61delinsAGGGAG (SGCG)	NP_001365174.1:n.*56_*61delinsAGGGAG
NM_001378246.1:c.*56_*61delinsAGGGAG (SGCG)	NP_001365175.1:n.*56_*61delinsAGGGAG