Canonical Allele Identifier: CA2385876815
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660177_31660178delinsTG , CM000683.2:g.31660177_31660178delinsTG GRCh38
NC_000021.8:g.33032490_33032491delinsTG , CM000683.1:g.33032490_33032491delinsTG GRCh37
NC_000021.7:g.31954361_31954362delinsTG NCBI36
NG_008689.1:g.5556_5557delinsTG , LRG_652:g.5556_5557delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+336_72+337delinsTG MANE Select ENSP00000270142.7:n.72+336_72+337delinsTG
ENST00000270142.10:c.72+336_72+337delinsTG ENSP00000270142.6:n.72+336_72+337delinsTG
ENST00000389995.4:c.15+393_15+394delinsTG ENSP00000374645.4:n.15+393_15+394delinsTG
ENST00000470944.1:n.469_470delinsTG
ENST00000476106.5:n.149+336_149+337delinsTG
NM_000454.4:c.72+336_72+337delinsTG , LRG_652t1:c.72+336_72+337delinsTG NP_000445.1:n.72+336_72+337delinsTG
NM_000454.5:c.72+336_72+337delinsTG MANE Select NP_000445.1:n.72+336_72+337delinsTG