Canonical Allele Identifier: CA748621641
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1439726484
gnomAD v3: 21-31664034-C-CT
gnomAD v4: 21-31664034-C-CT
MyVariant Identifiers: chr21:g.33036347_33036348insT (hg19) chr21:g.31664034_31664035insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31664035dup , CM000683.2:g.31664035dup GRCh38
NC_000021.8:g.33036348dup , CM000683.1:g.33036348dup GRCh37
NC_000021.7:g.31958219dup NCBI36
NG_008689.1:g.9414dup , LRG_652:g.9414dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.169+149dup MANE Select ENSP00000270142.7:n.169+149dup
ENST00000270142.10:c.169+149dup ENSP00000270142.6:n.169+149dup
ENST00000389995.4:c.112+149dup ENSP00000374645.4:n.112+149dup
ENST00000470944.1:n.1097+149dup
ENST00000476106.5:n.432+149dup
NM_000454.4:c.169+149dup , LRG_652t1:c.169+149dup NP_000445.1:n.169+149dup
NM_000454.5:c.169+149dup MANE Select NP_000445.1:n.169+149dup
Search 100 bp 5'
Search 100 bp 3'