Canonical Allele Identifier: CA2670209133
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800335-TGAGGTCTCACCTTCGCCTTTGCTGAAGTCTCCCCGCAGCCCTCTCCACCCA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800344_24800394del , CM000666.2:g.24800344_24800394del GRCh38
NC_000004.11:g.24801966_24802016del , CM000666.1:g.24801966_24802016del GRCh37
NC_000004.10:g.24411064_24411114del NCBI36
NG_012213.1:g.9882_9932del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*100_*150del MANE Select ENSP00000371554.3:n.*100_*150del
ENST00000382120.3:c.*100_*150del ENSP00000371554.3:n.*100_*150del
NM_003102.2:c.*100_*150del NP_003093.2:n.*100_*150del
XR_427488.1:n.1013_1063del
NM_003102.3:c.*100_*150del NP_003093.2:n.*100_*150del
NM_003102.4:c.*100_*150del MANE Select NP_003093.2:n.*100_*150del
Search 100 bp 5'
Search 100 bp 3'