Canonical Allele Identifier: CA2842405301
Gene: SOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667180dup , CM000683.2:g.31667180dup GRCh38
NC_000021.8:g.33039493dup , CM000683.1:g.33039493dup GRCh37
NC_000021.7:g.31961364dup NCBI36
NG_008689.1:g.12559dup , LRG_652:g.12559dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.240-78dup MANE Select ENSP00000270142.7:n.240-78dup
ENST00000270142.10:c.240-78dup ENSP00000270142.6:n.240-78dup
ENST00000389995.4:c.183-78dup ENSP00000374645.4:n.183-78dup
ENST00000470944.1:n.1168-78dup
ENST00000476106.5:n.503-78dup
NM_000454.4:c.240-78dup , LRG_652t1:c.240-78dup NP_000445.1:n.240-78dup
NM_000454.5:c.240-78dup MANE Select NP_000445.1:n.240-78dup