Canonical Allele Identifier: CA620716855

Gene: ROGDI

Linked Data

• dbSNP Id: rs1567597931
• gnomAD v2: 16-4848060-G-GTCCC
• gnomAD v4: 16-4798059-G-GTCCC
• MyVariant Identifiers: chr16:g.4848060_4848061insTCCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798063_4798066dup , CM000678.2:g.4798063_4798066dup	GRCh38
NC_000016.9:g.4848064_4848067dup , CM000678.1:g.4848064_4848067dup	GRCh37
NC_000016.8:g.4788065_4788068dup	NCBI36
NG_032174.1:g.9888_9891dup , LRG_455:g.9888_9891dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.645+8_645+11dup MANE Select	ENSP00000322832.6:n.645+8_645+11dup
ENST00000322048.11:c.645+8_645+11dup	ENSP00000322832.5:n.645+8_645+11dup
ENST00000586153.1:c.291+8_291+11dup	ENSP00000464699.1:n.291+8_291+11dup
ENST00000586336.5:n.744+8_744+11dup
ENST00000586504.5:c.425+8_425+11dup
ENST00000587377.5:c.658+8_658+11dup	ENSP00000468343.1:n.658+8_658+11dup
ENST00000587711.5:c.330+8_330+11dup	ENSP00000467459.1:n.330+8_330+11dup
ENST00000587843.5:c.*383+8_*383+11dup	ENSP00000465970.1:n.*383+8_*383+11dup
ENST00000588201.5:c.*636+8_*636+11dup	ENSP00000466529.1:n.*636+8_*636+11dup
ENST00000589543.5:n.602+8_602+11dup
ENST00000591292.5:n.1974+8_1974+11dup
ENST00000591392.5:c.573+8_573+11dup	ENSP00000467509.1:n.573+8_573+11dup
ENST00000592019.1:c.77-248_77-245dup
NM_024589.2:c.645+8_645+11dup , LRG_455t1:c.645+8_645+11dup	NP_078865.1:n.645+8_645+11dup
NR_046480.1:n.969+8_969+11dup
XM_006720947.2:c.645+8_645+11dup	XP_006721010.1:n.645+8_645+11dup
XM_006720948.2:c.375+8_375+11dup	XP_006721011.1:n.375+8_375+11dup
XM_006720947.4:c.645+8_645+11dup	XP_006721010.1:n.645+8_645+11dup
XM_006720948.4:c.375+8_375+11dup	XP_006721011.1:n.375+8_375+11dup
NM_024589.3:c.645+8_645+11dup MANE Select	NP_078865.1:n.645+8_645+11dup
NR_046480.2:n.652+8_652+11dup