Canonical Allele Identifier: CA2573140007
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1384078
ClinVar RCV Id: RCV001895726
dbSNP Id: rs2149632857

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90692777dup , CM000667.2:g.90692777dup GRCh38
NC_000005.9:g.89988594dup , CM000667.1:g.89988594dup GRCh37
NC_000005.8:g.90024350dup NCBI36
NG_007083.1:g.138978dup
NG_007083.2:g.168434dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.7124dup MANE Select ENSP00000384582.2:p.Arg2376GlnfsTer20
ENST00000639431.1:c.265+16568dup ENSP00000491057.1:n.265+16568dup
ENST00000639473.1:n.2583dup
ENST00000640012.1:c.931dup
ENST00000640374.1:n.268dup
ENST00000640403.1:c.4415dup ENSP00000492531.1:p.Arg1473GlnfsTer20
ENST00000640779.1:c.1853dup
ENST00000405460.6:c.7124dup ENSP00000384582.2:p.Arg2376GlnfsTer20
NM_032119.3:c.7124dup NP_115495.3:p.Arg2376GlnfsTer20
NR_003149.1:n.7137dup
XM_011543675.1:c.7121dup XP_011541977.1:p.Arg2375GlnfsTer20
XM_011543676.1:c.7043dup XP_011541978.1:p.Arg2349GlnfsTer20
XM_011543677.1:c.4427dup XP_011541979.1:p.Arg1477GlnfsTer20
XM_011543678.1:c.7124dup XP_011541980.1:p.Arg2376GlnfsTer20
XM_011543679.1:c.7124dup XP_011541981.1:p.Arg2376GlnfsTer20
NM_032119.4:c.7124dup MANE Select NP_115495.3:p.Arg2376GlnfsTer20
XM_017009963.2:c.7124dup XP_016865452.1:p.Arg2376GlnfsTer20
XM_017009964.2:c.7121dup XP_016865453.1:p.Arg2375GlnfsTer20
XM_017009965.1:c.7121dup XP_016865454.1:p.Arg2375GlnfsTer20
XM_017009966.2:c.7043dup XP_016865455.1:p.Arg2349GlnfsTer20
XM_017009967.1:c.7028dup XP_016865456.1:p.Arg2344GlnfsTer20
XM_017009968.2:c.7124dup XP_016865457.1:p.Arg2376GlnfsTer20
XM_017009969.2:c.7124dup XP_016865458.1:p.Arg2376GlnfsTer20
XM_017009970.2:c.7124dup XP_016865459.1:p.Arg2376GlnfsTer20
XM_017009971.2:c.7124dup XP_016865460.1:p.Arg2376GlnfsTer20
XM_017009972.1:c.242dup XP_016865461.1:p.Arg82GlnfsTer20
XM_017009973.1:c.242dup XP_016865462.1:p.Arg82GlnfsTer20
XM_017009974.2:c.7124dup XP_016865463.1:p.Arg2376GlnfsTer20
NR_003149.2:n.7140dup