Canonical Allele Identifier: CA2385876839
Gene: SOD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31660208_31660212delinsCCTTG , CM000683.2:g.31660208_31660212delinsCCTTG GRCh38
NC_000021.8:g.33032521_33032525delinsCCTTG , CM000683.1:g.33032521_33032525delinsCCTTG GRCh37
NC_000021.7:g.31954392_31954396delinsCCTTG NCBI36
NG_008689.1:g.5587_5591delinsCCTTG , LRG_652:g.5587_5591delinsCCTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.72+367_72+371delinsCCTTG MANE Select ENSP00000270142.7:n.72+367_72+371delinsCCTTG
ENST00000270142.10:c.72+367_72+371delinsCCTTG ENSP00000270142.6:n.72+367_72+371delinsCCTTG
ENST00000389995.4:c.15+424_15+428delinsCCTTG ENSP00000374645.4:n.15+424_15+428delinsCCTTG
ENST00000470944.1:n.500_504delinsCCTTG
ENST00000476106.5:n.149+367_149+371delinsCCTTG
NM_000454.4:c.72+367_72+371delinsCCTTG , LRG_652t1:c.72+367_72+371delinsCCTTG NP_000445.1:n.72+367_72+371delinsCCTTG
NM_000454.5:c.72+367_72+371delinsCCTTG MANE Select NP_000445.1:n.72+367_72+371delinsCCTTG
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