Canonical Allele Identifier: CA2670208889
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799746-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799750del , CM000666.2:g.24799750del GRCh38
NC_000004.11:g.24801372del , CM000666.1:g.24801372del GRCh37
NC_000004.10:g.24410470del NCBI36
NG_012213.1:g.9288del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.229del MANE Select ENSP00000371554.3:p.Arg77GlyfsTer2
ENST00000382120.3:c.229del ENSP00000371554.3:p.Arg77GlyfsTer2
NM_003102.2:c.229del NP_003093.2:p.Arg77GlyfsTer2
XR_427488.1:n.419del
NM_003102.3:c.229del NP_003093.2:p.Arg77GlyfsTer2
NM_003102.4:c.229del MANE Select NP_003093.2:p.Arg77GlyfsTer2
Search 100 bp 5'
Search 100 bp 3'