Canonical Allele Identifier: CA2631551708

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4798485-CACCCCTCCGCGTCCATCCTGAGGGCAAGCTGGGACCCACTGTGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798493_4798537del , CM000678.2:g.4798493_4798537del	GRCh38
NC_000016.9:g.4848494_4848538del , CM000678.1:g.4848494_4848538del	GRCh37
NC_000016.8:g.4788495_4788539del	NCBI36
NG_032174.1:g.9421_9465del , LRG_455:g.9421_9465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.531+39_531+83del MANE Select	ENSP00000322832.6:n.531+39_531+83del
ENST00000322048.11:c.531+39_531+83del	ENSP00000322832.5:n.531+39_531+83del
ENST00000586153.1:c.178-346_178-302del	ENSP00000464699.1:n.178-346_178-302del
ENST00000586336.5:n.630+39_630+83del
ENST00000586504.5:c.311+39_311+83del
ENST00000587377.5:c.544+39_544+83del	ENSP00000468343.1:n.544+39_544+83del
ENST00000587711.5:c.216+39_216+83del	ENSP00000467459.1:n.216+39_216+83del
ENST00000587843.5:c.*269+39_*269+83del	ENSP00000465970.1:n.*269+39_*269+83del
ENST00000588201.5:c.*522+39_*522+83del	ENSP00000466529.1:n.*522+39_*522+83del
ENST00000589543.5:n.488+39_488+83del
ENST00000591292.5:n.1860+39_1860+83del
ENST00000591392.5:c.459+39_459+83del	ENSP00000467509.1:n.459+39_459+83del
ENST00000592019.1:c.77-715_77-671del
NM_024589.2:c.531+39_531+83del , LRG_455t1:c.531+39_531+83del	NP_078865.1:n.531+39_531+83del
NR_046480.1:n.855+39_855+83del
XM_006720947.2:c.531+39_531+83del	XP_006721010.1:n.531+39_531+83del
XM_006720948.2:c.261+39_261+83del	XP_006721011.1:n.261+39_261+83del
XM_006720947.4:c.531+39_531+83del	XP_006721010.1:n.531+39_531+83del
XM_006720948.4:c.261+39_261+83del	XP_006721011.1:n.261+39_261+83del
NM_024589.3:c.531+39_531+83del MANE Select	NP_078865.1:n.531+39_531+83del
NR_046480.2:n.538+39_538+83del