Canonical Allele Identifier: CA2670208887
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799697-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799699del , CM000666.2:g.24799699del GRCh38
NC_000004.11:g.24801321del , CM000666.1:g.24801321del GRCh37
NC_000004.10:g.24410419del NCBI36
NG_012213.1:g.9237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.178del MANE Select ENSP00000371554.3:p.His60ThrfsTer19
ENST00000382120.3:c.178del ENSP00000371554.3:p.His60ThrfsTer19
NM_003102.2:c.178del NP_003093.2:p.His60ThrfsTer19
XR_427488.1:n.368del
NM_003102.3:c.178del NP_003093.2:p.His60ThrfsTer19
NM_003102.4:c.178del MANE Select NP_003093.2:p.His60ThrfsTer19
Search 100 bp 5'
Search 100 bp 3'