Canonical Allele Identifier: CA550665330
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1713852217
gnomAD v2: 4-24801905-G-GC
gnomAD v4: 4-24800283-G-GC
MyVariant Identifiers: chr4:g.24801910_24801911insC (hg19) chr4:g.24800288_24800289insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800289dup , CM000666.2:g.24800289dup GRCh38
NC_000004.11:g.24801911dup , CM000666.1:g.24801911dup GRCh37
NC_000004.10:g.24411009dup NCBI36
NG_012213.1:g.9827dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*45dup MANE Select ENSP00000371554.3:n.*45dup
ENST00000382120.3:c.*45dup ENSP00000371554.3:n.*45dup
NM_003102.2:c.*45dup NP_003093.2:n.*45dup
XR_427488.1:n.958dup
NM_003102.3:c.*45dup NP_003093.2:n.*45dup
NM_003102.4:c.*45dup MANE Select NP_003093.2:n.*45dup
Search 100 bp 5'
Search 100 bp 3'