Canonical Allele Identifier: CA1445033363
Gene: SOD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800274_24800275delinsAC , CM000666.2:g.24800274_24800275delinsAC GRCh38
NC_000004.11:g.24801896_24801897delinsAC , CM000666.1:g.24801896_24801897delinsAC GRCh37
NC_000004.10:g.24410994_24410995delinsAC NCBI36
NG_012213.1:g.9812_9813delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.*30_*31delinsAC MANE Select ENSP00000371554.3:n.*30_*31delinsAC
ENST00000382120.3:c.*30_*31delinsAC ENSP00000371554.3:n.*30_*31delinsAC
NM_003102.2:c.*30_*31delinsAC NP_003093.2:n.*30_*31delinsAC
XR_427488.1:n.943_944delinsAC
NM_003102.3:c.*30_*31delinsAC NP_003093.2:n.*30_*31delinsAC
NM_003102.4:c.*30_*31delinsAC MANE Select NP_003093.2:n.*30_*31delinsAC