Canonical Allele Identifier: CA748636189
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1336086497
gnomAD v3: 21-31667660-A-AT
gnomAD v4: 21-31667660-A-AT
MyVariant Identifiers: chr21:g.33039973_33039974insT (hg19) chr21:g.31667660_31667661insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667664dup , CM000683.2:g.31667664dup GRCh38
NC_000021.8:g.33039977dup , CM000683.1:g.33039977dup GRCh37
NC_000021.7:g.31961848dup NCBI36
NG_008689.1:g.13043dup , LRG_652:g.13043dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+289dup MANE Select ENSP00000270142.7:n.357+289dup
ENST00000270142.10:c.357+289dup ENSP00000270142.6:n.357+289dup
ENST00000389995.4:c.300+289dup ENSP00000374645.4:n.300+289dup
ENST00000470944.1:n.1285+289dup
NM_000454.4:c.357+289dup , LRG_652t1:c.357+289dup NP_000445.1:n.357+289dup
NM_000454.5:c.357+289dup MANE Select NP_000445.1:n.357+289dup
Search 100 bp 5'
Search 100 bp 3'