Canonical Allele Identifier: CA2760767572

Gene: SOD3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24800057_24800060del , CM000666.2:g.24800057_24800060del	GRCh38
NC_000004.11:g.24801679_24801682del , CM000666.1:g.24801679_24801682del	GRCh37
NC_000004.10:g.24410777_24410780del	NCBI36
NG_012213.1:g.9595_9598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.536_539del MANE Select	ENSP00000371554.3:p.Val179AlafsTer?
ENST00000382120.3:c.536_539del	ENSP00000371554.3:p.Val179AlafsTer?
NM_003102.2:c.536_539del	NP_003093.2:p.Val179AlafsTer?
XR_427488.1:n.726_729del
NM_003102.3:c.536_539del	NP_003093.2:p.Val179AlafsTer?
NM_003102.4:c.536_539del MANE Select	NP_003093.2:p.Val179AlafsTer?