Canonical Allele Identifier: CA2580073753

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2120764
• ClinVar RCV Id: RCV003025302
• gnomAD v4: 5-90755082-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755083del , CM000667.2:g.90755083del	GRCh38
NC_000005.9:g.90050900del , CM000667.1:g.90050900del	GRCh37
NC_000005.8:g.90086656del	NCBI36
NG_007083.1:g.201284del
NG_007083.2:g.230740del

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11478del MANE Select	ENSP00000384582.2:p.Asp3827IlefsTer16
ENST00000425867.3:c.609del	ENSP00000392618.3:p.Asp204IlefsTer16
ENST00000639431.1:c.265+78874del	ENSP00000491057.1:n.265+78874del
ENST00000640374.1:n.4622del
ENST00000640464.1:n.1897del
ENST00000405460.6:c.11478del	ENSP00000384582.2:p.Asp3827IlefsTer16
ENST00000509621.1:c.4175del
NM_032119.3:c.11478del	NP_115495.3:p.Asp3827IlefsTer16
NR_003149.1:n.11491del
XM_011543675.1:c.11475del	XP_011541977.1:p.Asp3826IlefsTer16
XM_011543676.1:c.11397del	XP_011541978.1:p.Asp3800IlefsTer16
XM_011543677.1:c.8781del	XP_011541979.1:p.Asp2928IlefsTer16
XM_011543678.1:c.11478del	XP_011541980.1:p.Asp3827IlefsTer16
NM_032119.4:c.11478del MANE Select	NP_115495.3:p.Asp3827IlefsTer16
XM_017009963.2:c.11499del	XP_016865452.1:p.Asp3834IlefsTer16
XM_017009964.2:c.11496del	XP_016865453.1:p.Asp3833IlefsTer16
XM_017009965.1:c.11496del	XP_016865454.1:p.Asp3833IlefsTer16
XM_017009966.2:c.11418del	XP_016865455.1:p.Asp3807IlefsTer16
XM_017009967.1:c.11403del	XP_016865456.1:p.Asp3802IlefsTer16
XM_017009968.2:c.11499del	XP_016865457.1:p.Asp3834IlefsTer16
XM_017009969.2:c.11499del	XP_016865458.1:p.Asp3834IlefsTer16
XM_017009970.2:c.11499del	XP_016865459.1:p.Asp3834IlefsTer16
XM_017009971.2:c.11499del	XP_016865460.1:p.Asp3834IlefsTer16
XM_017009972.1:c.4617del	XP_016865461.1:p.Asp1540IlefsTer16
XM_017009973.1:c.4596del	XP_016865462.1:p.Asp1533IlefsTer16
NR_003149.2:n.11494del