Canonical Allele Identifier: CA2385876558
Gene: SOD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659782_31659783delinsGC , CM000683.2:g.31659782_31659783delinsGC GRCh38
NC_000021.8:g.33032095_33032096delinsGC , CM000683.1:g.33032095_33032096delinsGC GRCh37
NC_000021.7:g.31953966_31953967delinsGC NCBI36
NG_008689.1:g.5161_5162delinsGC , LRG_652:g.5161_5162delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.13_14delinsGC MANE Select ENSP00000270142.7:p.Ala5=
ENST00000270142.10:c.13_14delinsGC ENSP00000270142.6:p.Ala5=
ENST00000389995.4:c.13_14delinsGC ENSP00000374645.4:p.Ala5=
ENST00000470944.1:n.74_75delinsGC
ENST00000476106.5:n.90_91delinsGC
NM_000454.4:c.13_14delinsGC , LRG_652t1:c.13_14delinsGC NP_000445.1:p.Ala5=
NM_000454.5:c.13_14delinsGC MANE Select NP_000445.1:p.Ala5=
Search 100 bp 5'
Search 100 bp 3'