Canonical Allele Identifier: CA2695230113

Gene: SOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659801_31659802delinsTT , CM000683.2:g.31659801_31659802delinsTT	GRCh38
NC_000021.8:g.33032114_33032115delinsTT , CM000683.1:g.33032114_33032115delinsTT	GRCh37
NC_000021.7:g.31953985_31953986delinsTT	NCBI36
NG_008689.1:g.5180_5181delinsTT , LRG_652:g.5180_5181delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.32_33delinsTT MANE Select	ENSP00000270142.7:p.Gly11Val
ENST00000270142.10:c.32_33delinsTT	ENSP00000270142.6:p.Gly11Val
ENST00000389995.4:c.15+17_15+18delinsTT	ENSP00000374645.4:n.15+17_15+18delinsTT
ENST00000470944.1:n.93_94delinsTT
ENST00000476106.5:n.109_110delinsTT
NM_000454.4:c.32_33delinsTT , LRG_652t1:c.32_33delinsTT	NP_000445.1:p.Gly11Val
NM_000454.5:c.32_33delinsTT MANE Select	NP_000445.1:p.Gly11Val