Canonical Allele Identifier: CA2695230112
Gene: SOD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659789_31659790delinsTT , CM000683.2:g.31659789_31659790delinsTT GRCh38
NC_000021.8:g.33032102_33032103delinsTT , CM000683.1:g.33032102_33032103delinsTT GRCh37
NC_000021.7:g.31953973_31953974delinsTT NCBI36
NG_008689.1:g.5168_5169delinsTT , LRG_652:g.5168_5169delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.20_21delinsTT MANE Select ENSP00000270142.7:p.Cys7Phe
ENST00000270142.10:c.20_21delinsTT ENSP00000270142.6:p.Cys7Phe
ENST00000389995.4:c.15+5_15+6delinsTT ENSP00000374645.4:n.15+5_15+6delinsTT
ENST00000470944.1:n.81_82delinsTT
ENST00000476106.5:n.97_98delinsTT
NM_000454.4:c.20_21delinsTT , LRG_652t1:c.20_21delinsTT NP_000445.1:p.Cys7Phe
NM_000454.5:c.20_21delinsTT MANE Select NP_000445.1:p.Cys7Phe
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