Canonical Allele Identifier: CA2631550172

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797966-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797967del , CM000678.2:g.4797967del	GRCh38
NC_000016.9:g.4847968del , CM000678.1:g.4847968del	GRCh37
NC_000016.8:g.4787969del	NCBI36
NG_032174.1:g.9984del , LRG_455:g.9984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.666del MANE Select	ENSP00000322832.6:p.Ala223ArgfsTer19
ENST00000322048.11:c.666del	ENSP00000322832.5:p.Ala223ArgfsTer19
ENST00000586153.1:c.312del	ENSP00000464699.1:p.Ala105ArgfsTer?
ENST00000586336.5:n.765del
ENST00000586504.5:c.425+104del
ENST00000587377.5:c.679del	ENSP00000468343.1:p.Arg227AlafsTer?
ENST00000587711.5:c.351del	ENSP00000467459.1:p.Ala118ArgfsTer19
ENST00000587843.5:c.*404del	ENSP00000465970.1:n.*404del
ENST00000588201.5:c.*657del	ENSP00000466529.1:n.*657del
ENST00000589543.5:n.623del
ENST00000591292.5:n.1995del
ENST00000591392.5:c.594del	ENSP00000467509.1:p.Ala199ArgfsTer19
ENST00000592019.1:c.77-152del
NM_024589.2:c.666del , LRG_455t1:c.666del	NP_078865.1:p.Ala223ArgfsTer19
NR_046480.1:n.990del
XM_006720947.2:c.666del	XP_006721010.1:p.Ala223ArgfsTer26
XM_006720948.2:c.396del	XP_006721011.1:p.Ala133ArgfsTer26
XM_006720947.4:c.666del	XP_006721010.1:p.Ala223ArgfsTer26
XM_006720948.4:c.396del	XP_006721011.1:p.Ala133ArgfsTer26
NM_024589.3:c.666del MANE Select	NP_078865.1:p.Ala223ArgfsTer19
NR_046480.2:n.673del