Canonical Allele Identifier: CA2654222279
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31660107-TGCCGCGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660112_31660118del , CM000683.2:g.31660112_31660118del GRCh38
NC_000021.8:g.33032425_33032431del , CM000683.1:g.33032425_33032431del GRCh37
NC_000021.7:g.31954296_31954302del NCBI36
NG_008689.1:g.5491_5497del , LRG_652:g.5491_5497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+271_72+277del MANE Select ENSP00000270142.7:n.72+271_72+277del
ENST00000270142.10:c.72+271_72+277del ENSP00000270142.6:n.72+271_72+277del
ENST00000389995.4:c.15+328_15+334del ENSP00000374645.4:n.15+328_15+334del
ENST00000470944.1:n.404_410del
ENST00000476106.5:n.149+271_149+277del
NM_000454.4:c.72+271_72+277del , LRG_652t1:c.72+271_72+277del NP_000445.1:n.72+271_72+277del
NM_000454.5:c.72+271_72+277del MANE Select NP_000445.1:n.72+271_72+277del
Search 100 bp 5'
Search 100 bp 3'