Canonical Allele Identifier: CA620513389

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 1598561
• ClinVar RCV Id: RCV002129593
• dbSNP Id: rs2082693928
• gnomAD v2: 16-4849673-C-CG
• gnomAD v4: 16-4799672-C-CG
• MyVariant Identifiers: chr16:g.4849673_4849674insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799677dup , CM000678.2:g.4799677dup	GRCh38
NC_000016.9:g.4849678dup , CM000678.1:g.4849678dup	GRCh37
NC_000016.8:g.4789679dup	NCBI36
NG_032174.1:g.8278dup , LRG_455:g.8278dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.432+13dup MANE Select	ENSP00000322832.6:n.432+13dup
ENST00000322048.11:c.432+13dup	ENSP00000322832.5:n.432+13dup
ENST00000585653.1:n.564+13dup
ENST00000586153.1:c.177+13dup	ENSP00000464699.1:n.177+13dup
ENST00000586336.5:n.531+13dup
ENST00000586504.5:c.212+13dup
ENST00000587377.5:c.423+22dup	ENSP00000468343.1:n.423+22dup
ENST00000587711.5:c.118-1006dup	ENSP00000467459.1:n.118-1006dup
ENST00000587843.5:c.*170+13dup	ENSP00000465970.1:n.*170+13dup
ENST00000588201.5:c.*289+13dup	ENSP00000466529.1:n.*289+13dup
ENST00000589543.5:n.389+13dup
ENST00000591292.5:n.1761+13dup
ENST00000591392.5:c.360+13dup	ENSP00000467509.1:n.360+13dup
ENST00000592019.1:c.76+88dup
NM_024589.2:c.432+13dup , LRG_455t1:c.432+13dup	NP_078865.1:n.432+13dup
NR_046480.1:n.756+13dup
XM_006720947.2:c.432+13dup	XP_006721010.1:n.432+13dup
XM_006720948.2:c.162+13dup	XP_006721011.1:n.162+13dup
XM_006720947.4:c.432+13dup	XP_006721010.1:n.432+13dup
XM_006720948.4:c.162+13dup	XP_006721011.1:n.162+13dup
NM_024589.3:c.432+13dup MANE Select	NP_078865.1:n.432+13dup
NR_046480.2:n.439+13dup