Canonical Allele Identifier: CA2631551554

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4798436-TCCCAGAAACCTGCCTAGACAGAATATTCCACCTATAATCTGGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798437_4798480del , CM000678.2:g.4798437_4798480del	GRCh38
NC_000016.9:g.4848438_4848481del , CM000678.1:g.4848438_4848481del	GRCh37
NC_000016.8:g.4788439_4788482del	NCBI36
NG_032174.1:g.9471_9514del , LRG_455:g.9471_9514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.531+89_531+132del MANE Select	ENSP00000322832.6:n.531+89_531+132del
ENST00000322048.11:c.531+89_531+132del	ENSP00000322832.5:n.531+89_531+132del
ENST00000586153.1:c.178-296_178-253del	ENSP00000464699.1:n.178-296_178-253del
ENST00000586336.5:n.630+89_630+132del
ENST00000586504.5:c.311+89_311+132del
ENST00000587377.5:c.544+89_544+132del	ENSP00000468343.1:n.544+89_544+132del
ENST00000587711.5:c.216+89_216+132del	ENSP00000467459.1:n.216+89_216+132del
ENST00000587843.5:c.*269+89_*269+132del	ENSP00000465970.1:n.*269+89_*269+132del
ENST00000588201.5:c.*522+89_*522+132del	ENSP00000466529.1:n.*522+89_*522+132del
ENST00000589543.5:n.488+89_488+132del
ENST00000591292.5:n.1860+89_1860+132del
ENST00000591392.5:c.459+89_459+132del	ENSP00000467509.1:n.459+89_459+132del
ENST00000592019.1:c.77-665_77-622del
NM_024589.2:c.531+89_531+132del , LRG_455t1:c.531+89_531+132del	NP_078865.1:n.531+89_531+132del
NR_046480.1:n.855+89_855+132del
XM_006720947.2:c.531+89_531+132del	XP_006721010.1:n.531+89_531+132del
XM_006720948.2:c.261+89_261+132del	XP_006721011.1:n.261+89_261+132del
XM_006720947.4:c.531+89_531+132del	XP_006721010.1:n.531+89_531+132del
XM_006720948.4:c.261+89_261+132del	XP_006721011.1:n.261+89_261+132del
NM_024589.3:c.531+89_531+132del MANE Select	NP_078865.1:n.531+89_531+132del
NR_046480.2:n.538+89_538+132del