Canonical Allele Identifier: CA2670209252
Gene: SOD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800369del , CM000666.2:g.24800369del GRCh38
NC_000004.11:g.24801991del , CM000666.1:g.24801991del GRCh37
NC_000004.10:g.24411089del NCBI36
NG_012213.1:g.9907del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*125del MANE Select ENSP00000371554.3:n.*125del
ENST00000382120.3:c.*125del ENSP00000371554.3:n.*125del
NM_003102.2:c.*125del NP_003093.2:n.*125del
XR_427488.1:n.1038del
NM_003102.3:c.*125del NP_003093.2:n.*125del
NM_003102.4:c.*125del MANE Select NP_003093.2:n.*125del