Canonical Allele Identifier: CA645517240
Gene: SOD3 HGNC NCBI

Linked Data

COSMIC: COSM4516765
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799748_24799749delinsTT , CM000666.2:g.24799748_24799749delinsTT GRCh38
NC_000004.11:g.24801370_24801371delinsTT , CM000666.1:g.24801370_24801371delinsTT GRCh37
NC_000004.10:g.24410468_24410469delinsTT NCBI36
NG_012213.1:g.9286_9287delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.227_228delinsTT MANE Select ENSP00000371554.3:p.Pro76Leu
ENST00000382120.3:c.227_228delinsTT ENSP00000371554.3:p.Pro76Leu
NM_003102.2:c.227_228delinsTT NP_003093.2:p.Pro76Leu
XR_427488.1:n.417_418delinsTT
NM_003102.3:c.227_228delinsTT NP_003093.2:p.Pro76Leu
NM_003102.4:c.227_228delinsTT MANE Select NP_003093.2:p.Pro76Leu
Search 100 bp 5'
Search 100 bp 3'