Canonical Allele Identifier: CA7882563

Gene: ROGDI

Linked Data

• dbSNP Id: rs756403059
• ExAC: 16:4847974 AG / A
• MyVariant Identifiers: chr16:g.4847975del (hg19) ; chr16:g.4797974del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797974del , CM000678.2:g.4797974del	GRCh38
NC_000016.9:g.4847975del , CM000678.1:g.4847975del	GRCh37
NC_000016.8:g.4787976del	NCBI36
NG_032174.1:g.9977del , LRG_455:g.9977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.659del MANE Select	ENSP00000322832.6:p.Ala220ValfsTer22
ENST00000322048.11:c.659del	ENSP00000322832.5:p.Ala220ValfsTer22
ENST00000586153.1:c.305del	ENSP00000464699.1:p.Ala102ValfsTer?
ENST00000586336.5:n.758del
ENST00000586504.5:c.425+97del
ENST00000587377.5:c.672del	ENSP00000468343.1:p.Trp225GlyfsTer?
ENST00000587711.5:c.344del	ENSP00000467459.1:p.Ala115ValfsTer22
ENST00000587843.5:c.*397del	ENSP00000465970.1:n.*397del
ENST00000588201.5:c.*650del	ENSP00000466529.1:n.*650del
ENST00000589543.5:n.616del
ENST00000591292.5:n.1988del
ENST00000591392.5:c.587del	ENSP00000467509.1:p.Ala196ValfsTer22
ENST00000592019.1:c.77-159del
NM_024589.2:c.659del , LRG_455t1:c.659del	NP_078865.1:p.Ala220ValfsTer22
NR_046480.1:n.983del
XM_006720947.2:c.659del	XP_006721010.1:p.Ala220ValfsTer29
XM_006720948.2:c.389del	XP_006721011.1:p.Ala130ValfsTer29
XM_006720947.4:c.659del	XP_006721010.1:p.Ala220ValfsTer29
XM_006720948.4:c.389del	XP_006721011.1:p.Ala130ValfsTer29
NM_024589.3:c.659del MANE Select	NP_078865.1:p.Ala220ValfsTer22
NR_046480.2:n.666del