Canonical Allele Identifier: CA2670208908

Gene: SOD3

Linked Data

• gnomAD v4: 4-24800108-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24800110del , CM000666.2:g.24800110del	GRCh38
NC_000004.11:g.24801732del , CM000666.1:g.24801732del	GRCh37
NC_000004.10:g.24410830del	NCBI36
NG_012213.1:g.9648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.589del MANE Select	ENSP00000371554.3:p.Glu197ArgfsTer?
ENST00000382120.3:c.589del	ENSP00000371554.3:p.Glu197ArgfsTer?
NM_003102.2:c.589del	NP_003093.2:p.Glu197ArgfsTer?
XR_427488.1:n.779del
NM_003102.3:c.589del	NP_003093.2:p.Glu197ArgfsTer?
NM_003102.4:c.589del MANE Select	NP_003093.2:p.Glu197ArgfsTer?