Canonical Allele Identifier: CA2573130261
Gene: SOD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667293_31667294del , CM000683.2:g.31667293_31667294del GRCh38
NC_000021.8:g.33039606_33039607del , CM000683.1:g.33039606_33039607del GRCh37
NC_000021.7:g.31961477_31961478del NCBI36
NG_008689.1:g.12672_12673del , LRG_652:g.12672_12673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.275_276del MANE Select ENSP00000270142.7:p.Lys92ArgfsTer9
ENST00000270142.10:c.275_276del ENSP00000270142.6:p.Lys92ArgfsTer9
ENST00000389995.4:c.218_219del ENSP00000374645.4:p.Lys73ArgfsTer9
ENST00000470944.1:n.1203_1204del
ENST00000476106.5:n.538_539del
NM_000454.4:c.275_276del , LRG_652t1:c.275_276del NP_000445.1:p.Lys92ArgfsTer9
NM_000454.5:c.275_276del MANE Select NP_000445.1:p.Lys92ArgfsTer9
Search 100 bp 5'
Search 100 bp 3'