Canonical Allele Identifier: CA2670208886
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799688-A-ACG
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799689_24799690dup , CM000666.2:g.24799689_24799690dup GRCh38
NC_000004.11:g.24801311_24801312dup , CM000666.1:g.24801311_24801312dup GRCh37
NC_000004.10:g.24410409_24410410dup NCBI36
NG_012213.1:g.9227_9228dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.168_169dup MANE Select ENSP00000371554.3:p.Gly57AlafsTer23
ENST00000382120.3:c.168_169dup ENSP00000371554.3:p.Gly57AlafsTer23
NM_003102.2:c.168_169dup NP_003093.2:p.Gly57AlafsTer23
XR_427488.1:n.358_359dup
NM_003102.3:c.168_169dup NP_003093.2:p.Gly57AlafsTer23
NM_003102.4:c.168_169dup MANE Select NP_003093.2:p.Gly57AlafsTer23
Search 100 bp 5'
Search 100 bp 3'