Canonical Allele Identifier: CA2817692674
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667178_31667179insT , CM000683.2:g.31667178_31667179insT GRCh38
NC_000021.8:g.33039491_33039492insT , CM000683.1:g.33039491_33039492insT GRCh37
NC_000021.7:g.31961362_31961363insT NCBI36
NG_008689.1:g.12557_12558insT , LRG_652:g.12557_12558insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.240-80_240-79insT MANE Select ENSP00000270142.7:n.240-80_240-79insT
ENST00000270142.10:c.240-80_240-79insT ENSP00000270142.6:n.240-80_240-79insT
ENST00000389995.4:c.183-80_183-79insT ENSP00000374645.4:n.183-80_183-79insT
ENST00000470944.1:n.1168-80_1168-79insT
ENST00000476106.5:n.503-80_503-79insT
NM_000454.4:c.240-80_240-79insT , LRG_652t1:c.240-80_240-79insT NP_000445.1:n.240-80_240-79insT
NM_000454.5:c.240-80_240-79insT MANE Select NP_000445.1:n.240-80_240-79insT