Canonical Allele Identifier: CA7882733

Gene: ROGDI

Linked Data

• dbSNP Id: rs776478297
• ExAC: 16:4849670 GC / G
• gnomAD v2: 16-4849670-GC-G
• gnomAD v4: 16-4799669-GC-G
• MyVariant Identifiers: chr16:g.4849671del (hg19) ; chr16:g.4799670del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799672del , CM000678.2:g.4799672del	GRCh38
NC_000016.9:g.4849673del , CM000678.1:g.4849673del	GRCh37
NC_000016.8:g.4789674del	NCBI36
NG_032174.1:g.8281del , LRG_455:g.8281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.432+16del MANE Select	ENSP00000322832.6:n.432+16del
ENST00000322048.11:c.432+16del	ENSP00000322832.5:n.432+16del
ENST00000585653.1:n.564+16del
ENST00000586153.1:c.177+16del	ENSP00000464699.1:n.177+16del
ENST00000586336.5:n.531+16del
ENST00000586504.5:c.212+16del
ENST00000587377.5:c.423+25del	ENSP00000468343.1:n.423+25del
ENST00000587711.5:c.118-1003del	ENSP00000467459.1:n.118-1003del
ENST00000587843.5:c.*170+16del	ENSP00000465970.1:n.*170+16del
ENST00000588201.5:c.*289+16del	ENSP00000466529.1:n.*289+16del
ENST00000589543.5:n.389+16del
ENST00000591292.5:n.1761+16del
ENST00000591392.5:c.360+16del	ENSP00000467509.1:n.360+16del
ENST00000592019.1:c.76+91del
NM_024589.2:c.432+16del , LRG_455t1:c.432+16del	NP_078865.1:n.432+16del
NR_046480.1:n.756+16del
XM_006720947.2:c.432+16del	XP_006721010.1:n.432+16del
XM_006720948.2:c.162+16del	XP_006721011.1:n.162+16del
XM_006720947.4:c.432+16del	XP_006721010.1:n.432+16del
XM_006720948.4:c.162+16del	XP_006721011.1:n.162+16del
NM_024589.3:c.432+16del MANE Select	NP_078865.1:n.432+16del
NR_046480.2:n.439+16del