Canonical Allele Identifier: CA2385876760
Gene: SOD1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660079_31660092delinsTGCGCGTGGCGGGA , CM000683.2:g.31660079_31660092delinsTGCGCGTGGCGGGA GRCh38
NC_000021.8:g.33032392_33032405delinsTGCGCGTGGCGGGA , CM000683.1:g.33032392_33032405delinsTGCGCGTGGCGGGA GRCh37
NC_000021.7:g.31954263_31954276delinsTGCGCGTGGCGGGA NCBI36
NG_008689.1:g.5458_5471delinsTGCGCGTGGCGGGA , LRG_652:g.5458_5471delinsTGCGCGTGGCGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+238_72+251delinsTGCGCGTGGCGGGA MANE Select ENSP00000270142.7:n.72+238_72+251delinsTGCGCGTGGCGGGA
ENST00000270142.10:c.72+238_72+251delinsTGCGCGTGGCGGGA ENSP00000270142.6:n.72+238_72+251delinsTGCGCGTGGCGGGA
ENST00000389995.4:c.15+295_15+308delinsTGCGCGTGGCGGGA ENSP00000374645.4:n.15+295_15+308delinsTGCGCGTGGCGGGA
ENST00000470944.1:n.371_384delinsTGCGCGTGGCGGGA
ENST00000476106.5:n.149+238_149+251delinsTGCGCGTGGCGGGA
NM_000454.4:c.72+238_72+251delinsTGCGCGTGGCGGGA , LRG_652t1:c.72+238_72+251delinsTGCGCGTGGCGGGA NP_000445.1:n.72+238_72+251delinsTGCGCGTGGCGGGA
NM_000454.5:c.72+238_72+251delinsTGCGCGTGGCGGGA MANE Select NP_000445.1:n.72+238_72+251delinsTGCGCGTGGCGGGA
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