Canonical Allele Identifier: CA748617935
Gene: SOD1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1312782309
gnomAD v3: 21-31659324-A-AGACGCT
gnomAD v4: 21-31659324-A-AGACGCT
MyVariant Identifiers: chr21:g.33031637_33031638insGACGCT (hg19) chr21:g.31659324_31659325insGACGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659326_31659331dup , CM000683.2:g.31659326_31659331dup GRCh38
NC_000021.8:g.33031639_33031644dup , CM000683.1:g.33031639_33031644dup GRCh37
NC_000021.7:g.31953510_31953515dup NCBI36
NG_008689.1:g.4705_4710dup , LRG_652:g.4705_4710dup

Transcript Alleles

HGVS Amino-acid Change
XR_430363.2:n.124+67_124+72dup
XR_937662.1:n.124+67_124+72dup
XR_002958653.1:n.88+67_88+72dup
XR_430363.3:n.159+67_159+72dup
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