Canonical Allele Identifier: CA2674574418

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763317-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763318_90763319del , CM000667.2:g.90763318_90763319del	GRCh38
NC_000005.9:g.90059135_90059136del , CM000667.1:g.90059135_90059136del	GRCh37
NC_000005.8:g.90094891_90094892del	NCBI36
NG_007083.1:g.209519_209520del
NG_007083.2:g.238975_238976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12134_12135del MANE Select	ENSP00000384582.2:p.Glu4045ValfsTer6
ENST00000425867.3:c.1088_1089del	ENSP00000392618.3:p.Glu363ValfsTer6
ENST00000639431.1:c.265+87109_265+87110del	ENSP00000491057.1:n.265+87109_265+87110del
ENST00000640464.1:n.2553_2554del
ENST00000640729.1:n.711_712del
ENST00000405460.6:c.12134_12135del	ENSP00000384582.2:p.Glu4045ValfsTer6
NM_032119.3:c.12134_12135del	NP_115495.3:p.Glu4045ValfsTer6
NR_003149.1:n.12147_12148del
XM_011543675.1:c.12131_12132del	XP_011541977.1:p.Glu4044ValfsTer6
XM_011543676.1:c.12053_12054del	XP_011541978.1:p.Glu4018ValfsTer6
XM_011543677.1:c.9437_9438del	XP_011541979.1:p.Glu3146ValfsTer6
XM_011543678.1:c.12134_12135del	XP_011541980.1:p.Glu4045ValfsTer6
NM_032119.4:c.12134_12135del MANE Select	NP_115495.3:p.Glu4045ValfsTer6
XM_017009963.2:c.12155_12156del	XP_016865452.1:p.Glu4052ValfsTer6
XM_017009964.2:c.12152_12153del	XP_016865453.1:p.Glu4051ValfsTer6
XM_017009965.1:c.12152_12153del	XP_016865454.1:p.Glu4051ValfsTer6
XM_017009966.2:c.12074_12075del	XP_016865455.1:p.Glu4025ValfsTer6
XM_017009967.1:c.12059_12060del	XP_016865456.1:p.Glu4020ValfsTer6
XM_017009968.2:c.12155_12156del	XP_016865457.1:p.Glu4052ValfsTer6
XM_017009969.2:c.12155_12156del	XP_016865458.1:p.Glu4052ValfsTer6
XM_017009970.2:c.12155_12156del	XP_016865459.1:p.Glu4052ValfsTer6
XM_017009971.2:c.12155_12156del	XP_016865460.1:p.Glu4052ValfsTer6
XM_017009972.1:c.5273_5274del	XP_016865461.1:p.Glu1758ValfsTer6
XM_017009973.1:c.5252_5253del	XP_016865462.1:p.Glu1751ValfsTer6
NR_003149.2:n.12150_12151del