Canonical Allele Identifier: CA748618926
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1340426380
MyVariant Identifiers: chr21:g.33032387del (hg19) chr21:g.31660074del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660076del , CM000683.2:g.31660076del GRCh38
NC_000021.8:g.33032389del , CM000683.1:g.33032389del GRCh37
NC_000021.7:g.31954260del NCBI36
NG_008689.1:g.5455del , LRG_652:g.5455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+235del MANE Select ENSP00000270142.7:n.72+235del
ENST00000270142.10:c.72+235del ENSP00000270142.6:n.72+235del
ENST00000389995.4:c.15+292del ENSP00000374645.4:n.15+292del
ENST00000470944.1:n.368del
ENST00000476106.5:n.149+235del
NM_000454.4:c.72+235del , LRG_652t1:c.72+235del NP_000445.1:n.72+235del
NM_000454.5:c.72+235del MANE Select NP_000445.1:n.72+235del
Search 100 bp 5'
Search 100 bp 3'