Canonical Allele Identifier: CA2654222045
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659909_31659910del , CM000683.2:g.31659909_31659910del GRCh38
NC_000021.8:g.33032222_33032223del , CM000683.1:g.33032222_33032223del GRCh37
NC_000021.7:g.31954093_31954094del NCBI36
NG_008689.1:g.5288_5289del , LRG_652:g.5288_5289del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+68_72+69del MANE Select ENSP00000270142.7:n.72+68_72+69del
ENST00000270142.10:c.72+68_72+69del ENSP00000270142.6:n.72+68_72+69del
ENST00000389995.4:c.15+125_15+126del ENSP00000374645.4:n.15+125_15+126del
ENST00000470944.1:n.201_202del
ENST00000476106.5:n.149+68_149+69del
NM_000454.4:c.72+68_72+69del , LRG_652t1:c.72+68_72+69del NP_000445.1:n.72+68_72+69del
NM_000454.5:c.72+68_72+69del MANE Select NP_000445.1:n.72+68_72+69del