Canonical Allele Identifier: CA2654223186

Gene: SOD1

Linked Data

• gnomAD v4: 21-31663880-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31663881del , CM000683.2:g.31663881del	GRCh38
NC_000021.8:g.33036194del , CM000683.1:g.33036194del	GRCh37
NC_000021.7:g.31958065del	NCBI36
NG_008689.1:g.9260del , LRG_652:g.9260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.164del MANE Select	ENSP00000270142.7:p.Thr55LysfsTer?
ENST00000270142.10:c.164del	ENSP00000270142.6:p.Thr55LysfsTer?
ENST00000389995.4:c.107del	ENSP00000374645.4:p.Thr36LysfsTer?
ENST00000470944.1:n.1092del
ENST00000476106.5:n.427del
NM_000454.4:c.164del , LRG_652t1:c.164del	NP_000445.1:p.Thr55LysfsTer?
NM_000454.5:c.164del MANE Select	NP_000445.1:p.Thr55LysfsTer?