Canonical Allele Identifier: CA2385876782
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs2049535298
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660112_31660121del , CM000683.2:g.31660112_31660121del GRCh38
NC_000021.8:g.33032425_33032434del , CM000683.1:g.33032425_33032434del GRCh37
NC_000021.7:g.31954296_31954305del NCBI36
NG_008689.1:g.5491_5500del , LRG_652:g.5491_5500del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+271_72+280del MANE Select ENSP00000270142.7:n.72+271_72+280del
ENST00000270142.10:c.72+271_72+280del ENSP00000270142.6:n.72+271_72+280del
ENST00000389995.4:c.15+328_15+337del ENSP00000374645.4:n.15+328_15+337del
ENST00000470944.1:n.404_413del
ENST00000476106.5:n.149+271_149+280del
NM_000454.4:c.72+271_72+280del , LRG_652t1:c.72+271_72+280del NP_000445.1:n.72+271_72+280del
NM_000454.5:c.72+271_72+280del MANE Select NP_000445.1:n.72+271_72+280del
Search 100 bp 5'
Search 100 bp 3'