Canonical Allele Identifier: CA2385878806
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs2049570619
gnomAD v4: 21-31663910-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31663913del , CM000683.2:g.31663913del GRCh38
NC_000021.8:g.33036226del , CM000683.1:g.33036226del GRCh37
NC_000021.7:g.31958097del NCBI36
NG_008689.1:g.9292del , LRG_652:g.9292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.169+27del MANE Select ENSP00000270142.7:n.169+27del
ENST00000270142.10:c.169+27del ENSP00000270142.6:n.169+27del
ENST00000389995.4:c.112+27del ENSP00000374645.4:n.112+27del
ENST00000470944.1:n.1097+27del
ENST00000476106.5:n.432+27del
NM_000454.4:c.169+27del , LRG_652t1:c.169+27del NP_000445.1:n.169+27del
NM_000454.5:c.169+27del MANE Select NP_000445.1:n.169+27del
Search 100 bp 5'
Search 100 bp 3'