Canonical Allele Identifier: CA2767419427
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90755117_90755118del , CM000667.2:g.90755117_90755118del GRCh38
NC_000005.9:g.90050934_90050935del , CM000667.1:g.90050934_90050935del GRCh37
NC_000005.8:g.90086690_90086691del NCBI36
NG_007083.1:g.201318_201319del
NG_007083.2:g.230774_230775del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.11512_11513del MANE Select ENSP00000384582.2:p.Leu3838AlafsTer24
ENST00000425867.3:c.643_644del ENSP00000392618.3:p.Leu215AlafsTer?
ENST00000639431.1:c.265+78908_265+78909del ENSP00000491057.1:n.265+78908_265+78909del
ENST00000640374.1:n.4656_4657del
ENST00000640464.1:n.1931_1932del
ENST00000405460.6:c.11512_11513del ENSP00000384582.2:p.Leu3838AlafsTer24
ENST00000509621.1:c.4209_4210del
NM_032119.3:c.11512_11513del NP_115495.3:p.Leu3838AlafsTer24
NR_003149.1:n.11525_11526del
XM_011543675.1:c.11509_11510del XP_011541977.1:p.Leu3837AlafsTer24
XM_011543676.1:c.11431_11432del XP_011541978.1:p.Leu3811AlafsTer24
XM_011543677.1:c.8815_8816del XP_011541979.1:p.Leu2939AlafsTer24
XM_011543678.1:c.11512_11513del XP_011541980.1:p.Leu3838AlafsTer24
NM_032119.4:c.11512_11513del MANE Select NP_115495.3:p.Leu3838AlafsTer24
XM_017009963.2:c.11533_11534del XP_016865452.1:p.Leu3845AlafsTer24
XM_017009964.2:c.11530_11531del XP_016865453.1:p.Leu3844AlafsTer24
XM_017009965.1:c.11530_11531del XP_016865454.1:p.Leu3844AlafsTer24
XM_017009966.2:c.11452_11453del XP_016865455.1:p.Leu3818AlafsTer24
XM_017009967.1:c.11437_11438del XP_016865456.1:p.Leu3813AlafsTer24
XM_017009968.2:c.11533_11534del XP_016865457.1:p.Leu3845AlafsTer24
XM_017009969.2:c.11533_11534del XP_016865458.1:p.Leu3845AlafsTer24
XM_017009970.2:c.11533_11534del XP_016865459.1:p.Leu3845AlafsTer24
XM_017009971.2:c.11533_11534del XP_016865460.1:p.Leu3845AlafsTer24
XM_017009972.1:c.4651_4652del XP_016865461.1:p.Leu1551AlafsTer24
XM_017009973.1:c.4630_4631del XP_016865462.1:p.Leu1544AlafsTer24
NR_003149.2:n.11528_11529del