Canonical Allele Identifier: CA748618433
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1457550323
gnomAD v3: 21-31659726-GT-G
gnomAD v4: 21-31659726-GT-G
MyVariant Identifiers: chr21:g.33032040del (hg19) chr21:g.31659727del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659728del , CM000683.2:g.31659728del GRCh38
NC_000021.8:g.33032041del , CM000683.1:g.33032041del GRCh37
NC_000021.7:g.31953912del NCBI36
NG_008689.1:g.5107del , LRG_652:g.5107del

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.-42del MANE Select ENSP00000270142.7:n.-42del
ENST00000270142.10:c.-42del ENSP00000270142.6:n.-42del
ENST00000389995.4:c.-42del ENSP00000374645.4:n.-42del
ENST00000470944.1:n.20del
ENST00000476106.5:n.36del
NM_000454.4:c.-42del , LRG_652t1:c.-42del NP_000445.1:n.-42del
NM_000454.5:c.-42del MANE Select NP_000445.1:n.-42del
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