Canonical Allele Identifier: CA2631551537

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4798430-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798434del , CM000678.2:g.4798434del	GRCh38
NC_000016.9:g.4848435del , CM000678.1:g.4848435del	GRCh37
NC_000016.8:g.4788436del	NCBI36
NG_032174.1:g.9520del , LRG_455:g.9520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.531+138del MANE Select	ENSP00000322832.6:n.531+138del
ENST00000322048.11:c.531+138del	ENSP00000322832.5:n.531+138del
ENST00000586153.1:c.178-247del	ENSP00000464699.1:n.178-247del
ENST00000586336.5:n.630+138del
ENST00000586504.5:c.311+138del
ENST00000587377.5:c.544+138del	ENSP00000468343.1:n.544+138del
ENST00000587711.5:c.216+138del	ENSP00000467459.1:n.216+138del
ENST00000587843.5:c.*269+138del	ENSP00000465970.1:n.*269+138del
ENST00000588201.5:c.*522+138del	ENSP00000466529.1:n.*522+138del
ENST00000589543.5:n.488+138del
ENST00000591292.5:n.1860+138del
ENST00000591392.5:c.459+138del	ENSP00000467509.1:n.459+138del
ENST00000592019.1:c.77-616del
NM_024589.2:c.531+138del , LRG_455t1:c.531+138del	NP_078865.1:n.531+138del
NR_046480.1:n.855+138del
XM_006720947.2:c.531+138del	XP_006721010.1:n.531+138del
XM_006720948.2:c.261+138del	XP_006721011.1:n.261+138del
XM_006720947.4:c.531+138del	XP_006721010.1:n.531+138del
XM_006720948.4:c.261+138del	XP_006721011.1:n.261+138del
NM_024589.3:c.531+138del MANE Select	NP_078865.1:n.531+138del
NR_046480.2:n.538+138del