Canonical Allele Identifier: CA2670208885
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799680-GGAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799688_24799690del , CM000666.2:g.24799688_24799690del GRCh38
NC_000004.11:g.24801310_24801312del , CM000666.1:g.24801310_24801312del GRCh37
NC_000004.10:g.24410408_24410410del NCBI36
NG_012213.1:g.9226_9228del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.167_169del MANE Select ENSP00000371554.3:p.Asp56del
ENST00000382120.3:c.167_169del ENSP00000371554.3:p.Asp56del
NM_003102.2:c.167_169del NP_003093.2:p.Asp56del
XR_427488.1:n.357_359del
NM_003102.3:c.167_169del NP_003093.2:p.Asp56del
NM_003102.4:c.167_169del MANE Select NP_003093.2:p.Asp56del
Search 100 bp 5'
Search 100 bp 3'