Canonical Allele Identifier: CA2654222281
Gene: SOD1 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660116_31660174del , CM000683.2:g.31660116_31660174del GRCh38
NC_000021.8:g.33032429_33032487del , CM000683.1:g.33032429_33032487del GRCh37
NC_000021.7:g.31954300_31954358del NCBI36
NG_008689.1:g.5495_5553del , LRG_652:g.5495_5553del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+275_72+333del MANE Select ENSP00000270142.7:n.72+275_72+333del
ENST00000270142.10:c.72+275_72+333del ENSP00000270142.6:n.72+275_72+333del
ENST00000389995.4:c.15+332_15+390del ENSP00000374645.4:n.15+332_15+390del
ENST00000470944.1:n.408_466del
ENST00000476106.5:n.149+275_149+333del
NM_000454.4:c.72+275_72+333del , LRG_652t1:c.72+275_72+333del NP_000445.1:n.72+275_72+333del
NM_000454.5:c.72+275_72+333del MANE Select NP_000445.1:n.72+275_72+333del
Search 100 bp 5'
Search 100 bp 3'