Canonical Allele Identifier: CA2385880394
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667246_31667250delinsTTTCA , CM000683.2:g.31667246_31667250delinsTTTCA GRCh38
NC_000021.8:g.33039559_33039563delinsTTTCA , CM000683.1:g.33039559_33039563delinsTTTCA GRCh37
NC_000021.7:g.31961430_31961434delinsTTTCA NCBI36
NG_008689.1:g.12625_12629delinsTTTCA , LRG_652:g.12625_12629delinsTTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.240-12_240-8delinsTTTCA MANE Select ENSP00000270142.7:n.240-12_240-8delinsTTTCA
ENST00000270142.10:c.240-12_240-8delinsTTTCA ENSP00000270142.6:n.240-12_240-8delinsTTTCA
ENST00000389995.4:c.183-12_183-8delinsTTTCA ENSP00000374645.4:n.183-12_183-8delinsTTTCA
ENST00000470944.1:n.1168-12_1168-8delinsTTTCA
ENST00000476106.5:n.503-12_503-8delinsTTTCA
NM_000454.4:c.240-12_240-8delinsTTTCA , LRG_652t1:c.240-12_240-8delinsTTTCA NP_000445.1:n.240-12_240-8delinsTTTCA
NM_000454.5:c.240-12_240-8delinsTTTCA MANE Select NP_000445.1:n.240-12_240-8delinsTTTCA