Canonical Allele Identifier: CA2582342642
Gene: ROGDI HGNC NCBI

Linked Data

ClinVar Variation Id: 2585558
ClinVar RCV Id: RCV003338175

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797986_4797991del , CM000678.2:g.4797986_4797991del GRCh38
NC_000016.9:g.4847987_4847992del , CM000678.1:g.4847987_4847992del GRCh37
NC_000016.8:g.4787988_4787993del NCBI36
NG_032174.1:g.9962_9967del , LRG_455:g.9962_9967del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.646-2_649del
ENST00000322048.11:c.646-2_649del
ENST00000586153.1:c.292-2_295del
ENST00000586336.5:n.745-2_748del
ENST00000586504.5:c.425+82_425+87del
ENST00000587377.5:c.659-2_662del
ENST00000587711.5:c.331-2_334del
ENST00000587843.5:c.*384-2_*387del
ENST00000588201.5:c.*637-2_*640del
ENST00000589543.5:n.603-2_606del
ENST00000591292.5:n.1975-2_1978del
ENST00000591392.5:c.574-2_577del
ENST00000592019.1:c.77-174_77-169del
NM_024589.2:c.646-2_649del , LRG_455t1:c.646-2_649del
NR_046480.1:n.970-2_973del
XM_006720947.2:c.646-2_649del
XM_006720948.2:c.376-2_379del
XM_006720947.4:c.646-2_649del
XM_006720948.4:c.376-2_379del
NM_024589.3:c.646-2_649del
NR_046480.2:n.653-2_656del