Canonical Allele Identifier: CA550665329
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v2: 4-24801905-GCCCCC-G
gnomAD v4: 4-24800283-GCCCCC-G
MyVariant Identifiers: chr4:g.24801906_24801910del (hg19) chr4:g.24800284_24800288del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800285_24800289del , CM000666.2:g.24800285_24800289del GRCh38
NC_000004.11:g.24801907_24801911del , CM000666.1:g.24801907_24801911del GRCh37
NC_000004.10:g.24411005_24411009del NCBI36
NG_012213.1:g.9823_9827del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*41_*45del MANE Select ENSP00000371554.3:n.*41_*45del
ENST00000382120.3:c.*41_*45del ENSP00000371554.3:n.*41_*45del
NM_003102.2:c.*41_*45del NP_003093.2:n.*41_*45del
XR_427488.1:n.954_958del
NM_003102.3:c.*41_*45del NP_003093.2:n.*41_*45del
NM_003102.4:c.*41_*45del MANE Select NP_003093.2:n.*41_*45del
Search 100 bp 5'
Search 100 bp 3'