Canonical Allele Identifier: CA2760767570
Gene: SOD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24800049_24800050insTTACGT , CM000666.2:g.24800049_24800050insTTACGT GRCh38
NC_000004.11:g.24801671_24801672insTTACGT , CM000666.1:g.24801671_24801672insTTACGT GRCh37
NC_000004.10:g.24410769_24410770insTTACGT NCBI36
NG_012213.1:g.9587_9588insTTACGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.528_529insTTACGT MANE Select ENSP00000371554.3:p.Arg176_Ala177insLeuArg
ENST00000382120.3:c.528_529insTTACGT ENSP00000371554.3:p.Arg176_Ala177insLeuArg
NM_003102.2:c.528_529insTTACGT NP_003093.2:p.Arg176_Ala177insLeuArg
XR_427488.1:n.718_719insTTACGT
NM_003102.3:c.528_529insTTACGT NP_003093.2:p.Arg176_Ala177insLeuArg
NM_003102.4:c.528_529insTTACGT MANE Select NP_003093.2:p.Arg176_Ala177insLeuArg