Canonical Allele Identifier: CA2573130405
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31659819-GCAT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659825_31659827del , CM000683.2:g.31659825_31659827del GRCh38
NC_000021.8:g.33032138_33032140del , CM000683.1:g.33032138_33032140del GRCh37
NC_000021.7:g.31954009_31954011del NCBI36
NG_008689.1:g.5204_5206del , LRG_652:g.5204_5206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.56_58del MANE Select ENSP00000270142.7:p.Ile19del
ENST00000270142.10:c.56_58del ENSP00000270142.6:p.Ile19del
ENST00000389995.4:c.15+41_15+43del ENSP00000374645.4:n.15+41_15+43del
ENST00000470944.1:n.117_119del
ENST00000476106.5:n.133_135del
NM_000454.4:c.56_58del , LRG_652t1:c.56_58del NP_000445.1:p.Ile19del
NM_000454.5:c.56_58del MANE Select NP_000445.1:p.Ile19del
Search 100 bp 5'
Search 100 bp 3'