Canonical Allele Identifier: CA748636210
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1407870467
gnomAD v3: 21-31667709-T-TA
gnomAD v4: 21-31667709-T-TA
MyVariant Identifiers: chr21:g.33040022_33040023insA (hg19) chr21:g.31667709_31667710insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667711dup , CM000683.2:g.31667711dup GRCh38
NC_000021.8:g.33040024dup , CM000683.1:g.33040024dup GRCh37
NC_000021.7:g.31961895dup NCBI36
NG_008689.1:g.13090dup , LRG_652:g.13090dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.357+336dup MANE Select ENSP00000270142.7:n.357+336dup
ENST00000270142.10:c.357+336dup ENSP00000270142.6:n.357+336dup
ENST00000389995.4:c.300+336dup ENSP00000374645.4:n.300+336dup
ENST00000470944.1:n.1285+336dup
NM_000454.4:c.357+336dup , LRG_652t1:c.357+336dup NP_000445.1:n.357+336dup
NM_000454.5:c.357+336dup MANE Select NP_000445.1:n.357+336dup
Search 100 bp 5'
Search 100 bp 3'