Canonical Allele Identifier: CA9998949
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs780665387
ExAC: 21:33039619 CG / C
gnomAD v2: 21-33039619-CG-C
gnomAD v4: 21-31667306-CG-C
MyVariant Identifiers: chr21:g.33039620del (hg19) chr21:g.31667307del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667307del , CM000683.2:g.31667307del GRCh38
NC_000021.8:g.33039620del , CM000683.1:g.33039620del GRCh37
NC_000021.7:g.31961491del NCBI36
NG_008689.1:g.12686del , LRG_652:g.12686del

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.289del MANE Select ENSP00000270142.7:p.Asp97MetfsTer8
ENST00000270142.10:c.289del ENSP00000270142.6:p.Asp97MetfsTer8
ENST00000389995.4:c.232del ENSP00000374645.4:p.Asp78MetfsTer8
ENST00000470944.1:n.1217del
ENST00000476106.5:n.552del
NM_000454.4:c.289del , LRG_652t1:c.289del NP_000445.1:p.Asp97MetfsTer8
NM_000454.5:c.289del MANE Select NP_000445.1:p.Asp97MetfsTer8
Search 100 bp 5'
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