Canonical Allele Identifier: CA2654222334
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31660156-CTTGGGCCGCCGCCGCGGGTCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660157_31660177del , CM000683.2:g.31660157_31660177del GRCh38
NC_000021.8:g.33032470_33032490del , CM000683.1:g.33032470_33032490del GRCh37
NC_000021.7:g.31954341_31954361del NCBI36
NG_008689.1:g.5536_5556del , LRG_652:g.5536_5556del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+316_72+336del MANE Select ENSP00000270142.7:n.72+316_72+336del
ENST00000270142.10:c.72+316_72+336del ENSP00000270142.6:n.72+316_72+336del
ENST00000389995.4:c.15+373_15+393del ENSP00000374645.4:n.15+373_15+393del
ENST00000470944.1:n.449_469del
ENST00000476106.5:n.149+316_149+336del
NM_000454.4:c.72+316_72+336del , LRG_652t1:c.72+316_72+336del NP_000445.1:n.72+316_72+336del
NM_000454.5:c.72+316_72+336del MANE Select NP_000445.1:n.72+316_72+336del
Search 100 bp 5'
Search 100 bp 3'