Canonical Allele Identifier: CA2577473196
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31667419-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667420del , CM000683.2:g.31667420del GRCh38
NC_000021.8:g.33039733del , CM000683.1:g.33039733del GRCh37
NC_000021.7:g.31961604del NCBI36
NG_008689.1:g.12799del , LRG_652:g.12799del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+45del MANE Select ENSP00000270142.7:n.357+45del
ENST00000270142.10:c.357+45del ENSP00000270142.6:n.357+45del
ENST00000389995.4:c.300+45del ENSP00000374645.4:n.300+45del
ENST00000470944.1:n.1285+45del
NM_000454.4:c.357+45del , LRG_652t1:c.357+45del NP_000445.1:n.357+45del
NM_000454.5:c.357+45del MANE Select NP_000445.1:n.357+45del
Search 100 bp 5'
Search 100 bp 3'