Canonical Allele Identifier: CA1021796956
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs2049534266
gnomAD v3: 21-31660038-G-GGGCGCGGGGCGTGGGACCGAGGCC
gnomAD v4: 21-31660038-G-GGGCGCGGGGCGTGGGACCGAGGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660040_31660063dup , CM000683.2:g.31660040_31660063dup GRCh38
NC_000021.8:g.33032353_33032376dup , CM000683.1:g.33032353_33032376dup GRCh37
NC_000021.7:g.31954224_31954247dup NCBI36
NG_008689.1:g.5419_5442dup , LRG_652:g.5419_5442dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+199_72+222dup MANE Select ENSP00000270142.7:n.72+199_72+222dup
ENST00000270142.10:c.72+199_72+222dup ENSP00000270142.6:n.72+199_72+222dup
ENST00000389995.4:c.15+256_15+279dup ENSP00000374645.4:n.15+256_15+279dup
ENST00000470944.1:n.332_355dup
ENST00000476106.5:n.149+199_149+222dup
NM_000454.4:c.72+199_72+222dup , LRG_652t1:c.72+199_72+222dup NP_000445.1:n.72+199_72+222dup
NM_000454.5:c.72+199_72+222dup MANE Select NP_000445.1:n.72+199_72+222dup
Search 100 bp 5'
Search 100 bp 3'