Canonical Allele Identifier: CA2654221997
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31659826-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659828del , CM000683.2:g.31659828del GRCh38
NC_000021.8:g.33032141del , CM000683.1:g.33032141del GRCh37
NC_000021.7:g.31954012del NCBI36
NG_008689.1:g.5207del , LRG_652:g.5207del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.59del MANE Select ENSP00000270142.7:p.Asn20IlefsTer11
ENST00000270142.10:c.59del ENSP00000270142.6:p.Asn20IlefsTer11
ENST00000389995.4:c.15+44del ENSP00000374645.4:n.15+44del
ENST00000470944.1:n.120del
ENST00000476106.5:n.136del
NM_000454.4:c.59del , LRG_652t1:c.59del NP_000445.1:p.Asn20IlefsTer11
NM_000454.5:c.59del MANE Select NP_000445.1:p.Asn20IlefsTer11
Search 100 bp 5'
Search 100 bp 3'