Canonical Allele Identifier: CA2670208891

Gene: SOD3

Linked Data

• gnomAD v4: 4-24799770-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24799771_24799772del , CM000666.2:g.24799771_24799772del	GRCh38
NC_000004.11:g.24801393_24801394del , CM000666.1:g.24801393_24801394del	GRCh37
NC_000004.10:g.24410491_24410492del	NCBI36
NG_012213.1:g.9309_9310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.250_251del MANE Select	ENSP00000371554.3:p.Phe84ProfsTer?
ENST00000382120.3:c.250_251del	ENSP00000371554.3:p.Phe84ProfsTer?
NM_003102.2:c.250_251del	NP_003093.2:p.Phe84ProfsTer?
XR_427488.1:n.440_441del
NM_003102.3:c.250_251del	NP_003093.2:p.Phe84ProfsTer?
NM_003102.4:c.250_251del MANE Select	NP_003093.2:p.Phe84ProfsTer?