Canonical Allele Identifier: CA793264378
Gene: SOD3 HGNC NCBI

Linked Data

dbSNP Id: rs1414527228
gnomAD v3: 4-24799680-G-GGAC
gnomAD v4: 4-24799680-G-GGAC
MyVariant Identifiers: chr4:g.24801302_24801303insGAC (hg19) chr4:g.24799680_24799681insGAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799688_24799690dup , CM000666.2:g.24799688_24799690dup GRCh38
NC_000004.11:g.24801310_24801312dup , CM000666.1:g.24801310_24801312dup GRCh37
NC_000004.10:g.24410408_24410410dup NCBI36
NG_012213.1:g.9226_9228dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.167_169dup MANE Select ENSP00000371554.3:p.Asp56_Gly57insAsp
ENST00000382120.3:c.167_169dup ENSP00000371554.3:p.Asp56_Gly57insAsp
NM_003102.2:c.167_169dup NP_003093.2:p.Asp56_Gly57insAsp
XR_427488.1:n.357_359dup
NM_003102.3:c.167_169dup NP_003093.2:p.Asp56_Gly57insAsp
NM_003102.4:c.167_169dup MANE Select NP_003093.2:p.Asp56_Gly57insAsp
Search 100 bp 5'
Search 100 bp 3'