Canonical Allele Identifier: CA2385876758
Gene: SOD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660076_31660077delinsGC , CM000683.2:g.31660076_31660077delinsGC GRCh38
NC_000021.8:g.33032389_33032390delinsGC , CM000683.1:g.33032389_33032390delinsGC GRCh37
NC_000021.7:g.31954260_31954261delinsGC NCBI36
NG_008689.1:g.5455_5456delinsGC , LRG_652:g.5455_5456delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+235_72+236delinsGC MANE Select ENSP00000270142.7:n.72+235_72+236delinsGC
ENST00000270142.10:c.72+235_72+236delinsGC ENSP00000270142.6:n.72+235_72+236delinsGC
ENST00000389995.4:c.15+292_15+293delinsGC ENSP00000374645.4:n.15+292_15+293delinsGC
ENST00000470944.1:n.368_369delinsGC
ENST00000476106.5:n.149+235_149+236delinsGC
NM_000454.4:c.72+235_72+236delinsGC , LRG_652t1:c.72+235_72+236delinsGC NP_000445.1:n.72+235_72+236delinsGC
NM_000454.5:c.72+235_72+236delinsGC MANE Select NP_000445.1:n.72+235_72+236delinsGC
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