Canonical Allele Identifier: CA2578359384

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2021126
• ClinVar RCV Id: RCV002862414

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745687_90745693del , CM000667.2:g.90745687_90745693del	GRCh38
NC_000005.9:g.90041504_90041510del , CM000667.1:g.90041504_90041510del	GRCh37
NC_000005.8:g.90077260_90077266del	NCBI36
NG_007083.1:g.191888_191894del
NG_007083.2:g.221344_221350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10866_10872del MANE Select	ENSP00000384582.2:p.Lys3622AsnfsTer17
ENST00000639431.1:c.265+69478_265+69484del	ENSP00000491057.1:n.265+69478_265+69484del
ENST00000640374.1:n.4010_4016del
ENST00000640464.1:n.1285_1291del
ENST00000405460.6:c.10866_10872del	ENSP00000384582.2:p.Lys3622AsnfsTer17
ENST00000509621.1:c.3563_3569del
NM_032119.3:c.10866_10872del	NP_115495.3:p.Lys3622AsnfsTer17
NR_003149.1:n.10879_10885del
XM_011543675.1:c.10863_10869del	XP_011541977.1:p.Lys3621AsnfsTer17
XM_011543676.1:c.10785_10791del	XP_011541978.1:p.Lys3595AsnfsTer17
XM_011543677.1:c.8169_8175del	XP_011541979.1:p.Lys2723AsnfsTer17
XM_011543678.1:c.10866_10872del	XP_011541980.1:p.Lys3622AsnfsTer17
NM_032119.4:c.10866_10872del MANE Select	NP_115495.3:p.Lys3622AsnfsTer17
XM_017009963.2:c.10887_10893del	XP_016865452.1:p.Lys3629AsnfsTer17
XM_017009964.2:c.10884_10890del	XP_016865453.1:p.Lys3628AsnfsTer17
XM_017009965.1:c.10884_10890del	XP_016865454.1:p.Lys3628AsnfsTer17
XM_017009966.2:c.10806_10812del	XP_016865455.1:p.Lys3602AsnfsTer17
XM_017009967.1:c.10791_10797del	XP_016865456.1:p.Lys3597AsnfsTer17
XM_017009968.2:c.10887_10893del	XP_016865457.1:p.Lys3629AsnfsTer17
XM_017009969.2:c.10887_10893del	XP_016865458.1:p.Lys3629AsnfsTer17
XM_017009970.2:c.10887_10893del	XP_016865459.1:p.Lys3629AsnfsTer17
XM_017009971.2:c.10887_10893del	XP_016865460.1:p.Lys3629AsnfsTer17
XM_017009972.1:c.4005_4011del	XP_016865461.1:p.Lys1335AsnfsTer17
XM_017009973.1:c.3984_3990del	XP_016865462.1:p.Lys1328AsnfsTer17
NR_003149.2:n.10882_10888del