Canonical Allele Identifier: CA2838397348

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23320597_23320598insGTT , CM000675.2:g.23320597_23320598insGTT	GRCh38
NC_000013.10:g.23894736_23894737insGTT , CM000675.1:g.23894736_23894737insGTT	GRCh37
NC_000013.9:g.22792736_22792737insGTT	NCBI36
NG_008759.1:g.144677_144678insGTT , LRG_207:g.144677_144678insGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-8483_2186-8482insAAC (SACS)	ENSP00000508399.1:n.2186-8483_2186-8482insAAC
ENST00000683210.1:c.2186-31355_2186-31354insAAC (SACS)	ENSP00000506739.1:n.2186-31355_2186-31354insAAC
ENST00000684325.1:c.*104+968_*104+969insAAC (SACS)	ENSP00000508121.1:n.*104+968_*104+969insAAC
ENST00000218867.4:c.579-40_579-39insGTT (SGCG) MANE Select	ENSP00000218867.3:n.579-40_579-39insGTT
ENST00000218867.3:c.579-40_579-39insGTT (SGCG)	ENSP00000218867.3:n.579-40_579-39insGTT
NM_000231.2:c.579-40_579-39insGTT , LRG_207t1:c.579-40_579-39insGTT (SGCG)	NP_000222.1:n.579-40_579-39insGTT
XM_005266505.2:c.579-40_579-39insGTT (SGCG)	XP_005266562.1:n.579-40_579-39insGTT
XM_006719861.2:c.633-40_633-39insGTT (SGCG)	XP_006719924.1:n.633-40_633-39insGTT
XM_006719861.3:c.633-40_633-39insGTT (SGCG)	XP_006719924.1:n.633-40_633-39insGTT
XM_024449397.1:c.579-40_579-39insGTT (SGCG)	XP_024305165.1:n.579-40_579-39insGTT
XR_001749787.1:n.1181+968_1181+969insAAC
NM_000231.3:c.579-40_579-39insGTT (SGCG) MANE Select	NP_000222.2:n.579-40_579-39insGTT
NM_001378244.1:c.633-40_633-39insGTT (SGCG)	NP_001365173.1:n.633-40_633-39insGTT
NM_001378245.1:c.579-40_579-39insGTT (SGCG)	NP_001365174.1:n.579-40_579-39insGTT
NM_001378246.1:c.579-40_579-39insGTT (SGCG)	NP_001365175.1:n.579-40_579-39insGTT