Canonical Allele Identifier: CA2577489089
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659907del , CM000683.2:g.31659907del GRCh38
NC_000021.8:g.33032220del , CM000683.1:g.33032220del GRCh37
NC_000021.7:g.31954091del NCBI36
NG_008689.1:g.5286del , LRG_652:g.5286del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+66del MANE Select ENSP00000270142.7:n.72+66del
ENST00000270142.10:c.72+66del ENSP00000270142.6:n.72+66del
ENST00000389995.4:c.15+123del ENSP00000374645.4:n.15+123del
ENST00000470944.1:n.199del
ENST00000476106.5:n.149+66del
NM_000454.4:c.72+66del , LRG_652t1:c.72+66del NP_000445.1:n.72+66del
NM_000454.5:c.72+66del MANE Select NP_000445.1:n.72+66del