Canonical Allele Identifier: CA2385880435
Gene: SOD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667315_31667318del , CM000683.2:g.31667315_31667318del GRCh38
NC_000021.8:g.33039628_33039631del , CM000683.1:g.33039628_33039631del GRCh37
NC_000021.7:g.31961499_31961502del NCBI36
NG_008689.1:g.12694_12697del , LRG_652:g.12694_12697del

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.297_300del MANE Select ENSP00000270142.7:p.Ile100LysfsTer4
ENST00000270142.10:c.297_300del ENSP00000270142.6:p.Ile100LysfsTer4
ENST00000389995.4:c.240_243del ENSP00000374645.4:p.Ile81LysfsTer4
ENST00000470944.1:n.1225_1228del
ENST00000476106.5:n.560_563del
NM_000454.4:c.297_300del , LRG_652t1:c.297_300del NP_000445.1:p.Ile100LysfsTer4
NM_000454.5:c.297_300del MANE Select NP_000445.1:p.Ile100LysfsTer4
Search 100 bp 5'
Search 100 bp 3'