Canonical Allele Identifier: CA2670209206

Gene: SOD3

Linked Data

• gnomAD v4: 4-24800355-TGCTGAAGTCTCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24800358_24800371del , CM000666.2:g.24800358_24800371del	GRCh38
NC_000004.11:g.24801980_24801993del , CM000666.1:g.24801980_24801993del	GRCh37
NC_000004.10:g.24411078_24411091del	NCBI36
NG_012213.1:g.9896_9909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.*114_*127del MANE Select	ENSP00000371554.3:n.*114_*127del
ENST00000382120.3:c.*114_*127del	ENSP00000371554.3:n.*114_*127del
NM_003102.2:c.*114_*127del	NP_003093.2:n.*114_*127del
XR_427488.1:n.1027_1040del
NM_003102.3:c.*114_*127del	NP_003093.2:n.*114_*127del
NM_003102.4:c.*114_*127del MANE Select	NP_003093.2:n.*114_*127del