Canonical Allele Identifier: CA2578057459

Gene: SOD3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24800048_24800049insC , CM000666.2:g.24800048_24800049insC	GRCh38
NC_000004.11:g.24801670_24801671insC , CM000666.1:g.24801670_24801671insC	GRCh37
NC_000004.10:g.24410768_24410769insC	NCBI36
NG_012213.1:g.9586_9587insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382120.4:c.527_528insC MANE Select	ENSP00000371554.3:p.Ala177GlyfsTer?
ENST00000382120.3:c.527_528insC	ENSP00000371554.3:p.Ala177GlyfsTer?
NM_003102.2:c.527_528insC	NP_003093.2:p.Ala177GlyfsTer?
XR_427488.1:n.717_718insC
NM_003102.3:c.527_528insC	NP_003093.2:p.Ala177GlyfsTer?
NM_003102.4:c.527_528insC MANE Select	NP_003093.2:p.Ala177GlyfsTer?