Canonical Allele Identifier: CA2631550516

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4798122-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798124del , CM000678.2:g.4798124del	GRCh38
NC_000016.9:g.4848125del , CM000678.1:g.4848125del	GRCh37
NC_000016.8:g.4788126del	NCBI36
NG_032174.1:g.9828del , LRG_455:g.9828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.593del MANE Select	ENSP00000322832.6:p.Lys198SerfsTer?
ENST00000322048.11:c.593del	ENSP00000322832.5:p.Lys198SerfsTer?
ENST00000586153.1:c.239del	ENSP00000464699.1:p.Lys80SerfsTer?
ENST00000586336.5:n.692del
ENST00000586504.5:c.373del
ENST00000587377.5:c.606del	ENSP00000468343.1:p.Ala203LeufsTer?
ENST00000587711.5:c.278del	ENSP00000467459.1:p.Lys93SerfsTer?
ENST00000587843.5:c.*331del	ENSP00000465970.1:n.*331del
ENST00000588201.5:c.*584del	ENSP00000466529.1:n.*584del
ENST00000589543.5:n.550del
ENST00000591292.5:n.1922del
ENST00000591392.5:c.521del	ENSP00000467509.1:p.Lys174SerfsTer?
ENST00000592019.1:c.77-308del
NM_024589.2:c.593del , LRG_455t1:c.593del	NP_078865.1:p.Lys198SerfsTer?
NR_046480.1:n.917del
XM_006720947.2:c.593del	XP_006721010.1:p.Lys198SerfsTer?
XM_006720948.2:c.323del	XP_006721011.1:p.Lys108SerfsTer?
XM_006720947.4:c.593del	XP_006721010.1:p.Lys198SerfsTer?
XM_006720948.4:c.323del	XP_006721011.1:p.Lys108SerfsTer?
NM_024589.3:c.593del MANE Select	NP_078865.1:p.Lys198SerfsTer?
NR_046480.2:n.600del