Canonical Allele Identifier: CA637245867
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1372918045
gnomAD v2: 21-33031963-AGGT-A
gnomAD v3: 21-31659650-AGGT-A
gnomAD v4: 21-31659650-AGGT-A
MyVariant Identifiers: chr21:g.33031964_33031966del (hg19) chr21:g.31659651_31659653del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659651_31659653del , CM000683.2:g.31659651_31659653del GRCh38
NC_000021.8:g.33031964_33031966del , CM000683.1:g.33031964_33031966del GRCh37
NC_000021.7:g.31953835_31953837del NCBI36
NG_008689.1:g.5030_5032del , LRG_652:g.5030_5032del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.10:c.-119_-117del ENSP00000270142.6:n.-119_-117del
NM_000454.4:c.-119_-117del , LRG_652t1:c.-119_-117del NP_000445.1:n.-119_-117del
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