Canonical Allele Identifier: CA1445033490
Gene: SOD3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800413_24800417delinsATCCT , CM000666.2:g.24800413_24800417delinsATCCT GRCh38
NC_000004.11:g.24802035_24802039delinsATCCT , CM000666.1:g.24802035_24802039delinsATCCT GRCh37
NC_000004.10:g.24411133_24411137delinsATCCT NCBI36
NG_012213.1:g.9951_9955delinsATCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*169_*173delinsATCCT MANE Select ENSP00000371554.3:n.*169_*173delinsATCCT
ENST00000382120.3:c.*169_*173delinsATCCT ENSP00000371554.3:n.*169_*173delinsATCCT
NM_003102.2:c.*169_*173delinsATCCT NP_003093.2:n.*169_*173delinsATCCT
XR_427488.1:n.1082_1086delinsATCCT
NM_003102.3:c.*169_*173delinsATCCT NP_003093.2:n.*169_*173delinsATCCT
NM_003102.4:c.*169_*173delinsATCCT MANE Select NP_003093.2:n.*169_*173delinsATCCT
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