Canonical Allele Identifier: CA2670208972
Gene: SOD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800270_24800271del , CM000666.2:g.24800270_24800271del GRCh38
NC_000004.11:g.24801892_24801893del , CM000666.1:g.24801892_24801893del GRCh37
NC_000004.10:g.24410990_24410991del NCBI36
NG_012213.1:g.9808_9809del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*26_*27del MANE Select ENSP00000371554.3:n.*26_*27del
ENST00000382120.3:c.*26_*27del ENSP00000371554.3:n.*26_*27del
NM_003102.2:c.*26_*27del NP_003093.2:n.*26_*27del
XR_427488.1:n.939_940del
NM_003102.3:c.*26_*27del NP_003093.2:n.*26_*27del
NM_003102.4:c.*26_*27del MANE Select NP_003093.2:n.*26_*27del