Canonical Allele Identifier: CA2578359620

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90716707-TAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716713_90716715del , CM000667.2:g.90716713_90716715del	GRCh38
NC_000005.9:g.90012530_90012532del , CM000667.1:g.90012530_90012532del	GRCh37
NC_000005.8:g.90048286_90048288del	NCBI36
NG_007083.1:g.162914_162916del
NG_007083.2:g.192370_192372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9431_9433del MANE Select	ENSP00000384582.2:p.Glu3144del
ENST00000639431.1:c.265+40504_265+40506del	ENSP00000491057.1:n.265+40504_265+40506del
ENST00000639473.1:n.4890_4892del
ENST00000640012.1:c.3238_3240del
ENST00000640374.1:n.2575_2577del
ENST00000640779.1:c.4160_4162del
ENST00000405460.6:c.9431_9433del	ENSP00000384582.2:p.Glu3144del
ENST00000509621.1:c.2128_2130del
NM_032119.3:c.9431_9433del	NP_115495.3:p.Glu3144del
NR_003149.1:n.9444_9446del
XM_011543675.1:c.9428_9430del	XP_011541977.1:p.Glu3143del
XM_011543676.1:c.9350_9352del	XP_011541978.1:p.Glu3117del
XM_011543677.1:c.6734_6736del	XP_011541979.1:p.Glu2245del
XM_011543678.1:c.9431_9433del	XP_011541980.1:p.Glu3144del
XM_011543679.1:c.9431_9433del	XP_011541981.1:p.Glu3144del
XR_948560.1:n.272-901_272-899del
NM_032119.4:c.9431_9433del MANE Select	NP_115495.3:p.Glu3144del
XM_017009963.2:c.9452_9454del	XP_016865452.1:p.Glu3151del
XM_017009964.2:c.9449_9451del	XP_016865453.1:p.Glu3150del
XM_017009965.1:c.9449_9451del	XP_016865454.1:p.Glu3150del
XM_017009966.2:c.9371_9373del	XP_016865455.1:p.Glu3124del
XM_017009967.1:c.9356_9358del	XP_016865456.1:p.Glu3119del
XM_017009968.2:c.9452_9454del	XP_016865457.1:p.Glu3151del
XM_017009969.2:c.9452_9454del	XP_016865458.1:p.Glu3151del
XM_017009970.2:c.9452_9454del	XP_016865459.1:p.Glu3151del
XM_017009971.2:c.9452_9454del	XP_016865460.1:p.Glu3151del
XM_017009972.1:c.2570_2572del	XP_016865461.1:p.Glu857del
XM_017009973.1:c.2549_2551del	XP_016865462.1:p.Glu850del
XM_017009974.2:c.9452_9454del	XP_016865463.1:p.Glu3151del
XR_001742802.1:n.2523-901_2523-899del
NR_003149.2:n.9447_9449del