Canonical Allele Identifier: CA2654221973

Gene: SOD1

Linked Data

• gnomAD v4: 21-31659715-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659716del , CM000683.2:g.31659716del	GRCh38
NC_000021.8:g.33032029del , CM000683.1:g.33032029del	GRCh37
NC_000021.7:g.31953900del	NCBI36
NG_008689.1:g.5095del , LRG_652:g.5095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.-54del MANE Select	ENSP00000270142.7:n.-54del
ENST00000270142.10:c.-54del	ENSP00000270142.6:n.-54del
ENST00000389995.4:c.-54del	ENSP00000374645.4:n.-54del
ENST00000470944.1:n.8del
ENST00000476106.5:n.24del
NM_000454.4:c.-54del , LRG_652t1:c.-54del	NP_000445.1:n.-54del
NM_000454.5:c.-54del MANE Select	NP_000445.1:n.-54del