Canonical Allele Identifier: CA2385878843
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663978_31663979delinsGT , CM000683.2:g.31663978_31663979delinsGT GRCh38
NC_000021.8:g.33036291_33036292delinsGT , CM000683.1:g.33036291_33036292delinsGT GRCh37
NC_000021.7:g.31958162_31958163delinsGT NCBI36
NG_008689.1:g.9357_9358delinsGT , LRG_652:g.9357_9358delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.169+92_169+93delinsGT MANE Select ENSP00000270142.7:n.169+92_169+93delinsGT
ENST00000270142.10:c.169+92_169+93delinsGT ENSP00000270142.6:n.169+92_169+93delinsGT
ENST00000389995.4:c.112+92_112+93delinsGT ENSP00000374645.4:n.112+92_112+93delinsGT
ENST00000470944.1:n.1097+92_1097+93delinsGT
ENST00000476106.5:n.432+92_432+93delinsGT
NM_000454.4:c.169+92_169+93delinsGT , LRG_652t1:c.169+92_169+93delinsGT NP_000445.1:n.169+92_169+93delinsGT
NM_000454.5:c.169+92_169+93delinsGT MANE Select NP_000445.1:n.169+92_169+93delinsGT