Canonical Allele Identifier: CA2654222299
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660132del , CM000683.2:g.31660132del GRCh38
NC_000021.8:g.33032445del , CM000683.1:g.33032445del GRCh37
NC_000021.7:g.31954316del NCBI36
NG_008689.1:g.5511del , LRG_652:g.5511del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+291del MANE Select ENSP00000270142.7:n.72+291del
ENST00000270142.10:c.72+291del ENSP00000270142.6:n.72+291del
ENST00000389995.4:c.15+348del ENSP00000374645.4:n.15+348del
ENST00000470944.1:n.424del
ENST00000476106.5:n.149+291del
NM_000454.4:c.72+291del , LRG_652t1:c.72+291del NP_000445.1:n.72+291del
NM_000454.5:c.72+291del MANE Select NP_000445.1:n.72+291del