Canonical Allele Identifier: CA2385876510
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659726_31659727delinsGT , CM000683.2:g.31659726_31659727delinsGT GRCh38
NC_000021.8:g.33032039_33032040delinsGT , CM000683.1:g.33032039_33032040delinsGT GRCh37
NC_000021.7:g.31953910_31953911delinsGT NCBI36
NG_008689.1:g.5105_5106delinsGT , LRG_652:g.5105_5106delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.-44_-43delinsGT MANE Select ENSP00000270142.7:n.-44_-43delinsGT
ENST00000270142.10:c.-44_-43delinsGT ENSP00000270142.6:n.-44_-43delinsGT
ENST00000389995.4:c.-44_-43delinsGT ENSP00000374645.4:n.-44_-43delinsGT
ENST00000470944.1:n.18_19delinsGT
ENST00000476106.5:n.34_35delinsGT
NM_000454.4:c.-44_-43delinsGT , LRG_652t1:c.-44_-43delinsGT NP_000445.1:n.-44_-43delinsGT
NM_000454.5:c.-44_-43delinsGT MANE Select NP_000445.1:n.-44_-43delinsGT