Canonical Allele Identifier: CA2840049535
Gene: SOD3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799979_24799980insAGTTGC , CM000666.2:g.24799979_24799980insAGTTGC GRCh38
NC_000004.11:g.24801601_24801602insAGTTGC , CM000666.1:g.24801601_24801602insAGTTGC GRCh37
NC_000004.10:g.24410699_24410700insAGTTGC NCBI36
NG_012213.1:g.9517_9518insAGTTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.458_459insAGTTGC MANE Select ENSP00000371554.3:p.Asp153delinsGluValAla
ENST00000382120.3:c.458_459insAGTTGC ENSP00000371554.3:p.Asp153delinsGluValAla
NM_003102.2:c.458_459insAGTTGC NP_003093.2:p.Asp153delinsGluValAla
XR_427488.1:n.648_649insAGTTGC
NM_003102.3:c.458_459insAGTTGC NP_003093.2:p.Asp153delinsGluValAla
NM_003102.4:c.458_459insAGTTGC MANE Select NP_003093.2:p.Asp153delinsGluValAla
Search 100 bp 5'
Search 100 bp 3'