Canonical Allele Identifier: CA2670208888
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799701-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799702del , CM000666.2:g.24799702del GRCh38
NC_000004.11:g.24801324del , CM000666.1:g.24801324del GRCh37
NC_000004.10:g.24410422del NCBI36
NG_012213.1:g.9240del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.181del MANE Select ENSP00000371554.3:p.Ala61ProfsTer18
ENST00000382120.3:c.181del ENSP00000371554.3:p.Ala61ProfsTer18
NM_003102.2:c.181del NP_003093.2:p.Ala61ProfsTer18
XR_427488.1:n.371del
NM_003102.3:c.181del NP_003093.2:p.Ala61ProfsTer18
NM_003102.4:c.181del MANE Select NP_003093.2:p.Ala61ProfsTer18
Search 100 bp 5'
Search 100 bp 3'