Canonical Allele Identifier: CA2670209284
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24800379-T-TGGGTGGAGAGGGCTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800379_24800380insGGGTGGAGAGGGCTG , CM000666.2:g.24800379_24800380insGGGTGGAGAGGGCTG GRCh38
NC_000004.11:g.24802001_24802002insGGGTGGAGAGGGCTG , CM000666.1:g.24802001_24802002insGGGTGGAGAGGGCTG GRCh37
NC_000004.10:g.24411099_24411100insGGGTGGAGAGGGCTG NCBI36
NG_012213.1:g.9917_9918insGGGTGGAGAGGGCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*135_*136insGGGTGGAGAGGGCTG MANE Select ENSP00000371554.3:n.*135_*136insGGGTGGAGAGGGCTG
ENST00000382120.3:c.*135_*136insGGGTGGAGAGGGCTG ENSP00000371554.3:n.*135_*136insGGGTGGAGAGGGCTG
NM_003102.2:c.*135_*136insGGGTGGAGAGGGCTG NP_003093.2:n.*135_*136insGGGTGGAGAGGGCTG
XR_427488.1:n.1048_1049insGGGTGGAGAGGGCTG
NM_003102.3:c.*135_*136insGGGTGGAGAGGGCTG NP_003093.2:n.*135_*136insGGGTGGAGAGGGCTG
NM_003102.4:c.*135_*136insGGGTGGAGAGGGCTG MANE Select NP_003093.2:n.*135_*136insGGGTGGAGAGGGCTG
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