Canonical Allele Identifier: CA2817701705
Gene: SOD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660192_31660196dup , CM000683.2:g.31660192_31660196dup GRCh38
NC_000021.8:g.33032505_33032509dup , CM000683.1:g.33032505_33032509dup GRCh37
NC_000021.7:g.31954376_31954380dup NCBI36
NG_008689.1:g.5571_5575dup , LRG_652:g.5571_5575dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+351_72+355dup MANE Select ENSP00000270142.7:n.72+351_72+355dup
ENST00000270142.10:c.72+351_72+355dup ENSP00000270142.6:n.72+351_72+355dup
ENST00000389995.4:c.15+408_15+412dup ENSP00000374645.4:n.15+408_15+412dup
ENST00000470944.1:n.484_488dup
ENST00000476106.5:n.149+351_149+355dup
NM_000454.4:c.72+351_72+355dup , LRG_652t1:c.72+351_72+355dup NP_000445.1:n.72+351_72+355dup
NM_000454.5:c.72+351_72+355dup MANE Select NP_000445.1:n.72+351_72+355dup
Search 100 bp 5'
Search 100 bp 3'