Canonical Allele Identifier: CA277135866

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 530797
• ClinVar RCV Id: RCV000636834
• dbSNP Id: rs1039568775
• gnomAD v3: 16-4797967-G-GC
• gnomAD v4: 16-4797967-G-GC
• MyVariant Identifiers: chr16:g.4847969dup (hg19) ; chr16:g.4847968_4847969insC (hg19) ; chr16:g.4797968dup (hg38) ; chr16:g.4797967_4797968insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797972dup , CM000678.2:g.4797972dup	GRCh38
NC_000016.9:g.4847973dup , CM000678.1:g.4847973dup	GRCh37
NC_000016.8:g.4787974dup	NCBI36
NG_032174.1:g.9983dup , LRG_455:g.9983dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.665dup MANE Select	ENSP00000322832.6:p.Ala223ArgfsTer5
ENST00000322048.11:c.665dup	ENSP00000322832.5:p.Ala223ArgfsTer5
ENST00000586153.1:c.311dup	ENSP00000464699.1:p.Ala105ArgfsTer5
ENST00000586336.5:n.764dup
ENST00000586504.5:c.425+103dup
ENST00000587377.5:c.678dup	ENSP00000468343.1:p.Arg227AlafsTer20
ENST00000587711.5:c.350dup	ENSP00000467459.1:p.Ala118ArgfsTer5
ENST00000587843.5:c.*403dup	ENSP00000465970.1:n.*403dup
ENST00000588201.5:c.*656dup	ENSP00000466529.1:n.*656dup
ENST00000589543.5:n.622dup
ENST00000591292.5:n.1994dup
ENST00000591392.5:c.593dup	ENSP00000467509.1:p.Ala199ArgfsTer5
ENST00000592019.1:c.77-153dup
NM_024589.2:c.665dup , LRG_455t1:c.665dup	NP_078865.1:p.Ala223ArgfsTer5
NR_046480.1:n.989dup
XM_006720947.2:c.665dup	XP_006721010.1:p.Ala223ArgfsTer5
XM_006720948.2:c.395dup	XP_006721011.1:p.Ala133ArgfsTer5
XM_006720947.4:c.665dup	XP_006721010.1:p.Ala223ArgfsTer5
XM_006720948.4:c.395dup	XP_006721011.1:p.Ala133ArgfsTer5
NM_024589.3:c.665dup MANE Select	NP_078865.1:p.Ala223ArgfsTer5
NR_046480.2:n.672dup