Canonical Allele Identifier: CA2670208884
Gene: SOD3 HGNC NCBI

Linked Data

gnomAD v4: 4-24799678-CG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799681del , CM000666.2:g.24799681del GRCh38
NC_000004.11:g.24801303del , CM000666.1:g.24801303del GRCh37
NC_000004.10:g.24410401del NCBI36
NG_012213.1:g.9219del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.160del MANE Select ENSP00000371554.3:p.Asp54ThrfsTer25
ENST00000382120.3:c.160del ENSP00000371554.3:p.Asp54ThrfsTer25
ENST00000598411.1:c.160del ENSP00000472134.1:p.Asp54=
NM_003102.2:c.160del NP_003093.2:p.Asp54ThrfsTer25
XR_427488.1:n.350del
NM_003102.3:c.160del NP_003093.2:p.Asp54ThrfsTer25
NM_003102.4:c.160del MANE Select NP_003093.2:p.Asp54ThrfsTer25
Search 100 bp 5'
Search 100 bp 3'