Canonical Allele Identifier: CA1562859307
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1039156
ClinVar RCV Id: RCV001342580
dbSNP Id: rs1746646550

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90692731_90692732delinsTA , CM000667.2:g.90692731_90692732delinsTA GRCh38
NC_000005.9:g.89988548_89988549delinsTA , CM000667.1:g.89988548_89988549delinsTA GRCh37
NC_000005.8:g.90024304_90024305delinsTA NCBI36
NG_007083.1:g.138932_138933delinsTA
NG_007083.2:g.168388_168389delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.7078_7079delinsTA MANE Select ENSP00000384582.2:p.Arg2360Tyr
ENST00000639431.1:c.265+16522_265+16523delinsTA ENSP00000491057.1:n.265+16522_265+16523de...
ENST00000639473.1:n.2537_2538delinsTA
ENST00000640012.1:c.885_886delinsTA
ENST00000640374.1:n.222_223delinsTA
ENST00000640403.1:c.4369_4370delinsTA ENSP00000492531.1:p.Arg1457Tyr
ENST00000640779.1:c.1807_1808delinsTA
ENST00000405460.6:c.7078_7079delinsTA ENSP00000384582.2:p.Arg2360Tyr
NM_032119.3:c.7078_7079delinsTA NP_115495.3:p.Arg2360Tyr
NR_003149.1:n.7091_7092delinsTA
XM_011543675.1:c.7075_7076delinsTA XP_011541977.1:p.Arg2359Tyr
XM_011543676.1:c.6997_6998delinsTA XP_011541978.1:p.Arg2333Tyr
XM_011543677.1:c.4381_4382delinsTA XP_011541979.1:p.Arg1461Tyr
XM_011543678.1:c.7078_7079delinsTA XP_011541980.1:p.Arg2360Tyr
XM_011543679.1:c.7078_7079delinsTA XP_011541981.1:p.Arg2360Tyr
NM_032119.4:c.7078_7079delinsTA MANE Select NP_115495.3:p.Arg2360Tyr
XM_017009963.2:c.7078_7079delinsTA XP_016865452.1:p.Arg2360Tyr
XM_017009964.2:c.7075_7076delinsTA XP_016865453.1:p.Arg2359Tyr
XM_017009965.1:c.7075_7076delinsTA XP_016865454.1:p.Arg2359Tyr
XM_017009966.2:c.6997_6998delinsTA XP_016865455.1:p.Arg2333Tyr
XM_017009967.1:c.6982_6983delinsTA XP_016865456.1:p.Arg2328Tyr
XM_017009968.2:c.7078_7079delinsTA XP_016865457.1:p.Arg2360Tyr
XM_017009969.2:c.7078_7079delinsTA XP_016865458.1:p.Arg2360Tyr
XM_017009970.2:c.7078_7079delinsTA XP_016865459.1:p.Arg2360Tyr
XM_017009971.2:c.7078_7079delinsTA XP_016865460.1:p.Arg2360Tyr
XM_017009972.1:c.196_197delinsTA XP_016865461.1:p.Arg66Tyr
XM_017009973.1:c.196_197delinsTA XP_016865462.1:p.Arg66Tyr
XM_017009974.2:c.7078_7079delinsTA XP_016865463.1:p.Arg2360Tyr
NR_003149.2:n.7094_7095delinsTA