Canonical Allele Identifier: CA319330916
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs901609623
gnomAD v2: 21-33032435-A-AGGGGCG
gnomAD v3: 21-31660122-A-AGGGGCG
gnomAD v4: 21-31660122-A-AGGGGCG
MyVariant Identifiers: chr21:g.33032435_33032436insGGGGCG (hg19) chr21:g.31660122_31660123insGGGGCG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660131_31660136dup , CM000683.2:g.31660131_31660136dup GRCh38
NC_000021.8:g.33032444_33032449dup , CM000683.1:g.33032444_33032449dup GRCh37
NC_000021.7:g.31954315_31954320dup NCBI36
NG_008689.1:g.5510_5515dup , LRG_652:g.5510_5515dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+290_72+295dup MANE Select ENSP00000270142.7:n.72+290_72+295dup
ENST00000270142.10:c.72+290_72+295dup ENSP00000270142.6:n.72+290_72+295dup
ENST00000389995.4:c.15+347_15+352dup ENSP00000374645.4:n.15+347_15+352dup
ENST00000470944.1:n.423_428dup
ENST00000476106.5:n.149+290_149+295dup
NM_000454.4:c.72+290_72+295dup , LRG_652t1:c.72+290_72+295dup NP_000445.1:n.72+290_72+295dup
NM_000454.5:c.72+290_72+295dup MANE Select NP_000445.1:n.72+290_72+295dup
Search 100 bp 5'
Search 100 bp 3'