Canonical Allele Identifier: CA2654222295
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31660122-AGGGGCG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660131_31660136del , CM000683.2:g.31660131_31660136del GRCh38
NC_000021.8:g.33032444_33032449del , CM000683.1:g.33032444_33032449del GRCh37
NC_000021.7:g.31954315_31954320del NCBI36
NG_008689.1:g.5510_5515del , LRG_652:g.5510_5515del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+290_72+295del MANE Select ENSP00000270142.7:n.72+290_72+295del
ENST00000270142.10:c.72+290_72+295del ENSP00000270142.6:n.72+290_72+295del
ENST00000389995.4:c.15+347_15+352del ENSP00000374645.4:n.15+347_15+352del
ENST00000470944.1:n.423_428del
ENST00000476106.5:n.149+290_149+295del
NM_000454.4:c.72+290_72+295del , LRG_652t1:c.72+290_72+295del NP_000445.1:n.72+290_72+295del
NM_000454.5:c.72+290_72+295del MANE Select NP_000445.1:n.72+290_72+295del
Search 100 bp 5'
Search 100 bp 3'