Canonical Allele Identifier: CA2670208958
Gene: SOD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800265_24800266del , CM000666.2:g.24800265_24800266del GRCh38
NC_000004.11:g.24801887_24801888del , CM000666.1:g.24801887_24801888del GRCh37
NC_000004.10:g.24410985_24410986del NCBI36
NG_012213.1:g.9803_9804del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*21_*22del MANE Select ENSP00000371554.3:n.*21_*22del
ENST00000382120.3:c.*21_*22del ENSP00000371554.3:n.*21_*22del
NM_003102.2:c.*21_*22del NP_003093.2:n.*21_*22del
XR_427488.1:n.934_935del
NM_003102.3:c.*21_*22del NP_003093.2:n.*21_*22del
NM_003102.4:c.*21_*22del MANE Select NP_003093.2:n.*21_*22del