Canonical Allele Identifier: CA721101978

Gene: ROGDI

Linked Data

• dbSNP Id: rs1227239315
• gnomAD v3: 16-4799645-C-CGT
• gnomAD v4: 16-4799645-C-CGT
• MyVariant Identifiers: chr16:g.4849646_4849647insGT (hg19) ; chr16:g.4799645_4799646insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799647_4799648dup , CM000678.2:g.4799647_4799648dup	GRCh38
NC_000016.9:g.4849648_4849649dup , CM000678.1:g.4849648_4849649dup	GRCh37
NC_000016.8:g.4789649_4789650dup	NCBI36
NG_032174.1:g.8304_8305dup , LRG_455:g.8304_8305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.432+39_432+40dup MANE Select	ENSP00000322832.6:n.432+39_432+40dup
ENST00000322048.11:c.432+39_432+40dup	ENSP00000322832.5:n.432+39_432+40dup
ENST00000585653.1:n.564+39_564+40dup
ENST00000586153.1:c.177+39_177+40dup	ENSP00000464699.1:n.177+39_177+40dup
ENST00000586336.5:n.531+39_531+40dup
ENST00000586504.5:c.212+39_212+40dup
ENST00000587377.5:c.423+48_423+49dup	ENSP00000468343.1:n.423+48_423+49dup
ENST00000587711.5:c.118-980_118-979dup	ENSP00000467459.1:n.118-980_118-979dup
ENST00000587843.5:c.*170+39_*170+40dup	ENSP00000465970.1:n.*170+39_*170+40dup
ENST00000588201.5:c.*289+39_*289+40dup	ENSP00000466529.1:n.*289+39_*289+40dup
ENST00000589543.5:n.389+39_389+40dup
ENST00000591292.5:n.1761+39_1761+40dup
ENST00000591392.5:c.360+39_360+40dup	ENSP00000467509.1:n.360+39_360+40dup
ENST00000592019.1:c.76+114_76+115dup
NM_024589.2:c.432+39_432+40dup , LRG_455t1:c.432+39_432+40dup	NP_078865.1:n.432+39_432+40dup
NR_046480.1:n.756+39_756+40dup
XM_006720947.2:c.432+39_432+40dup	XP_006721010.1:n.432+39_432+40dup
XM_006720948.2:c.162+39_162+40dup	XP_006721011.1:n.162+39_162+40dup
XM_006720947.4:c.432+39_432+40dup	XP_006721010.1:n.432+39_432+40dup
XM_006720948.4:c.162+39_162+40dup	XP_006721011.1:n.162+39_162+40dup
NM_024589.3:c.432+39_432+40dup MANE Select	NP_078865.1:n.432+39_432+40dup
NR_046480.2:n.439+39_439+40dup