Canonical Allele Identifier: CA915943421

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 812215
• ClinVar RCV Id: RCV001002858
• dbSNP Id: rs1581041519

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763309del , CM000667.2:g.90763309del	GRCh38
NC_000005.9:g.90059126del , CM000667.1:g.90059126del	GRCh37
NC_000005.8:g.90094882del	NCBI36
NG_007083.1:g.209510del
NG_007083.2:g.238966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12125del MANE Select	ENSP00000384582.2:p.Met4042ArgfsTer15
ENST00000425867.3:c.1079del	ENSP00000392618.3:p.Met360ArgfsTer15
ENST00000639431.1:c.265+87100del	ENSP00000491057.1:n.265+87100del
ENST00000640464.1:n.2544del
ENST00000640729.1:n.702del
ENST00000405460.6:c.12125del	ENSP00000384582.2:p.Met4042ArgfsTer15
NM_032119.3:c.12125del	NP_115495.3:p.Met4042ArgfsTer15
NR_003149.1:n.12138del
XM_011543675.1:c.12122del	XP_011541977.1:p.Met4041ArgfsTer15
XM_011543676.1:c.12044del	XP_011541978.1:p.Met4015ArgfsTer15
XM_011543677.1:c.9428del	XP_011541979.1:p.Met3143ArgfsTer15
XM_011543678.1:c.12125del	XP_011541980.1:p.Met4042ArgfsTer15
NM_032119.4:c.12125del MANE Select	NP_115495.3:p.Met4042ArgfsTer15
XM_017009963.2:c.12146del	XP_016865452.1:p.Met4049ArgfsTer15
XM_017009964.2:c.12143del	XP_016865453.1:p.Met4048ArgfsTer15
XM_017009965.1:c.12143del	XP_016865454.1:p.Met4048ArgfsTer15
XM_017009966.2:c.12065del	XP_016865455.1:p.Met4022ArgfsTer15
XM_017009967.1:c.12050del	XP_016865456.1:p.Met4017ArgfsTer15
XM_017009968.2:c.12146del	XP_016865457.1:p.Met4049ArgfsTer15
XM_017009969.2:c.12146del	XP_016865458.1:p.Met4049ArgfsTer15
XM_017009970.2:c.12146del	XP_016865459.1:p.Met4049ArgfsTer15
XM_017009971.2:c.12146del	XP_016865460.1:p.Met4049ArgfsTer15
XM_017009972.1:c.5264del	XP_016865461.1:p.Met1755ArgfsTer15
XM_017009973.1:c.5243del	XP_016865462.1:p.Met1748ArgfsTer15
NR_003149.2:n.12141del