Canonical Allele Identifier: CA2654221999
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31659848-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659849del , CM000683.2:g.31659849del GRCh38
NC_000021.8:g.33032162del , CM000683.1:g.33032162del GRCh37
NC_000021.7:g.31954033del NCBI36
NG_008689.1:g.5228del , LRG_652:g.5228del

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.72+8del MANE Select ENSP00000270142.7:n.72+8del
ENST00000270142.10:c.72+8del ENSP00000270142.6:n.72+8del
ENST00000389995.4:c.15+65del ENSP00000374645.4:n.15+65del
ENST00000470944.1:n.141del
ENST00000476106.5:n.149+8del
NM_000454.4:c.72+8del , LRG_652t1:c.72+8del NP_000445.1:n.72+8del
NM_000454.5:c.72+8del MANE Select NP_000445.1:n.72+8del
Search 100 bp 5'
Search 100 bp 3'