Canonical Allele Identifier: CA2654222197
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31660023-TCA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660025_31660026del , CM000683.2:g.31660025_31660026del GRCh38
NC_000021.8:g.33032338_33032339del , CM000683.1:g.33032338_33032339del GRCh37
NC_000021.7:g.31954209_31954210del NCBI36
NG_008689.1:g.5404_5405del , LRG_652:g.5404_5405del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+184_72+185del MANE Select ENSP00000270142.7:n.72+184_72+185del
ENST00000270142.10:c.72+184_72+185del ENSP00000270142.6:n.72+184_72+185del
ENST00000389995.4:c.15+241_15+242del ENSP00000374645.4:n.15+241_15+242del
ENST00000470944.1:n.317_318del
ENST00000476106.5:n.149+184_149+185del
NM_000454.4:c.72+184_72+185del , LRG_652t1:c.72+184_72+185del NP_000445.1:n.72+184_72+185del
NM_000454.5:c.72+184_72+185del MANE Select NP_000445.1:n.72+184_72+185del
Search 100 bp 5'
Search 100 bp 3'