Canonical Allele Identifier: CA2580091165

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 2041089
• ClinVar RCV Id: RCV002890942

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797939dup , CM000678.2:g.4797939dup	GRCh38
NC_000016.9:g.4847940dup , CM000678.1:g.4847940dup	GRCh37
NC_000016.8:g.4787941dup	NCBI36
NG_032174.1:g.10013dup , LRG_455:g.10013dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.695dup MANE Select	ENSP00000322832.6:p.Glu233ArgfsTer?
ENST00000322048.11:c.695dup	ENSP00000322832.5:p.Glu233ArgfsTer?
ENST00000586153.1:c.341dup	ENSP00000464699.1:p.Gly115TrpfsTer?
ENST00000586336.5:n.794dup
ENST00000586504.5:c.426-98dup
ENST00000587377.5:c.*15dup	ENSP00000468343.1:n.*15dup
ENST00000587711.5:c.380dup	ENSP00000467459.1:p.Glu128ArgfsTer?
ENST00000587843.5:c.*433dup	ENSP00000465970.1:n.*433dup
ENST00000588201.5:c.*686dup	ENSP00000466529.1:n.*686dup
ENST00000589543.5:n.652dup
ENST00000591292.5:n.2024dup
ENST00000591392.5:c.623dup	ENSP00000467509.1:p.Glu209ArgfsTer?
ENST00000592019.1:c.77-123dup
NM_024589.2:c.695dup , LRG_455t1:c.695dup	NP_078865.1:p.Glu233ArgfsTer?
NR_046480.1:n.1019dup
XM_006720947.2:c.695dup	XP_006721010.1:p.Leu232PhefsTer?
XM_006720948.2:c.425dup	XP_006721011.1:p.Leu142PhefsTer?
XM_006720947.4:c.695dup	XP_006721010.1:p.Leu232PhefsTer?
XM_006720948.4:c.425dup	XP_006721011.1:p.Leu142PhefsTer?
NM_024589.3:c.695dup MANE Select	NP_078865.1:p.Glu233ArgfsTer?
NR_046480.2:n.702dup