Canonical Allele Identifier: CA793265759
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1171518019
gnomAD v4: 4-24800413-ATCCT-A
MyVariant Identifiers: chr4:g.24802036_24802039del (hg19) chr4:g.24800414_24800417del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800417_24800420del , CM000666.2:g.24800417_24800420del GRCh38
NC_000004.11:g.24802039_24802042del , CM000666.1:g.24802039_24802042del GRCh37
NC_000004.10:g.24411137_24411140del NCBI36
NG_012213.1:g.9955_9958del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*173_*176del MANE Select ENSP00000371554.3:n.*173_*176del
ENST00000382120.3:c.*173_*176del ENSP00000371554.3:n.*173_*176del
NM_003102.2:c.*173_*176del NP_003093.2:n.*173_*176del
XR_427488.1:n.1086_1089del
NM_003102.3:c.*173_*176del NP_003093.2:n.*173_*176del
NM_003102.4:c.*173_*176del MANE Select NP_003093.2:n.*173_*176del
Search 100 bp 5'
Search 100 bp 3'