Canonical Allele Identifier: CA637245864

Gene: SOD1

Linked Data

• dbSNP Id: rs1438766715
• gnomAD v2: 21-33031954-GAGGCGCGGAGGTCTGGCCTATAAAGT-G
• gnomAD v3: 21-31659641-GAGGCGCGGAGGTCTGGCCTATAAAGT-G
• gnomAD v4: 21-31659641-GAGGCGCGGAGGTCTGGCCTATAAAGT-G
• MyVariant Identifiers: chr21:g.33031955_33031980del (hg19) ; chr21:g.31659642_31659667del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31659644_31659669del , CM000683.2:g.31659644_31659669del	GRCh38
NC_000021.8:g.33031957_33031982del , CM000683.1:g.33031957_33031982del	GRCh37
NC_000021.7:g.31953828_31953853del	NCBI36
NG_008689.1:g.5023_5048del , LRG_652:g.5023_5048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.10:c.-126_-101del	ENSP00000270142.6:n.-126_-101del
NM_000454.4:c.-126_-101del , LRG_652t1:c.-126_-101del	NP_000445.1:n.-126_-101del