Canonical Allele Identifier: CA2631550555

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4798127-TGAGGTTGATGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798130_4798141del , CM000678.2:g.4798130_4798141del	GRCh38
NC_000016.9:g.4848131_4848142del , CM000678.1:g.4848131_4848142del	GRCh37
NC_000016.8:g.4788132_4788143del	NCBI36
NG_032174.1:g.9812_9823del , LRG_455:g.9812_9823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.577_588del MANE Select	ENSP00000322832.6:p.Tyr193_Leu196del
ENST00000322048.11:c.577_588del	ENSP00000322832.5:p.Tyr193_Leu196del
ENST00000586153.1:c.223_234del	ENSP00000464699.1:p.Tyr75_Leu78del
ENST00000586336.5:n.676_687del
ENST00000586504.5:c.357_368del
ENST00000587377.5:c.590_601del	ENSP00000468343.1:p.Leu197_Pro200del
ENST00000587711.5:c.262_273del	ENSP00000467459.1:p.Tyr88_Leu91del
ENST00000587843.5:c.*315_*326del	ENSP00000465970.1:n.*315_*326del
ENST00000588201.5:c.*568_*579del	ENSP00000466529.1:n.*568_*579del
ENST00000589543.5:n.534_545del
ENST00000591292.5:n.1906_1917del
ENST00000591392.5:c.505_516del	ENSP00000467509.1:p.Tyr169_Leu172del
ENST00000592019.1:c.77-324_77-313del
NM_024589.2:c.577_588del , LRG_455t1:c.577_588del	NP_078865.1:p.Tyr193_Leu196del
NR_046480.1:n.901_912del
XM_006720947.2:c.577_588del	XP_006721010.1:p.Tyr193_Leu196del
XM_006720948.2:c.307_318del	XP_006721011.1:p.Tyr103_Leu106del
XM_006720947.4:c.577_588del	XP_006721010.1:p.Tyr193_Leu196del
XM_006720948.4:c.307_318del	XP_006721011.1:p.Tyr103_Leu106del
NM_024589.3:c.577_588del MANE Select	NP_078865.1:p.Tyr193_Leu196del
NR_046480.2:n.584_595del