Canonical Allele Identifier: CA2531706906

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797980-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797982del , CM000678.2:g.4797982del	GRCh38
NC_000016.9:g.4847983del , CM000678.1:g.4847983del	GRCh37
NC_000016.8:g.4787984del	NCBI36
NG_032174.1:g.9970del , LRG_455:g.9970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.652del MANE Select	ENSP00000322832.6:p.Arg218AlafsTer24
ENST00000322048.11:c.652del	ENSP00000322832.5:p.Arg218AlafsTer24
ENST00000586153.1:c.298del	ENSP00000464699.1:p.Arg100AlafsTer?
ENST00000586336.5:n.751del
ENST00000586504.5:c.425+90del
ENST00000587377.5:c.665del	ENSP00000468343.1:p.Pro222ArgfsTer?
ENST00000587711.5:c.337del	ENSP00000467459.1:p.Arg113AlafsTer24
ENST00000587843.5:c.*390del	ENSP00000465970.1:n.*390del
ENST00000588201.5:c.*643del	ENSP00000466529.1:n.*643del
ENST00000589543.5:n.609del
ENST00000591292.5:n.1981del
ENST00000591392.5:c.580del	ENSP00000467509.1:p.Arg194AlafsTer24
ENST00000592019.1:c.77-166del
NM_024589.2:c.652del , LRG_455t1:c.652del	NP_078865.1:p.Arg218AlafsTer24
NR_046480.1:n.976del
XM_006720947.2:c.652del	XP_006721010.1:p.Arg218AlafsTer?
XM_006720948.2:c.382del	XP_006721011.1:p.Arg128AlafsTer?
XM_006720947.4:c.652del	XP_006721010.1:p.Arg218AlafsTer?
XM_006720948.4:c.382del	XP_006721011.1:p.Arg128AlafsTer?
NM_024589.3:c.652del MANE Select	NP_078865.1:p.Arg218AlafsTer24
NR_046480.2:n.659del