Canonical Allele Identifier: CA2760767574
Gene: SOD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800068_24800069insA , CM000666.2:g.24800068_24800069insA GRCh38
NC_000004.11:g.24801690_24801691insA , CM000666.1:g.24801690_24801691insA GRCh37
NC_000004.10:g.24410788_24410789insA NCBI36
NG_012213.1:g.9606_9607insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.547_548insA MANE Select ENSP00000371554.3:p.Gly183GlufsTer?
ENST00000382120.3:c.547_548insA ENSP00000371554.3:p.Gly183GlufsTer?
NM_003102.2:c.547_548insA NP_003093.2:p.Gly183GlufsTer?
XR_427488.1:n.737_738insA
NM_003102.3:c.547_548insA NP_003093.2:p.Gly183GlufsTer?
NM_003102.4:c.547_548insA MANE Select NP_003093.2:p.Gly183GlufsTer?