Canonical Allele Identifier: CA2840668470
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90745623_90745626del , CM000667.2:g.90745623_90745626del GRCh38
NC_000005.9:g.90041440_90041443del , CM000667.1:g.90041440_90041443del GRCh37
NC_000005.8:g.90077196_90077199del NCBI36
NG_007083.1:g.191824_191827del
NG_007083.2:g.221280_221283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.10802_10805del MANE Select ENSP00000384582.2:p.Arg3601LysfsTer4
ENST00000639431.1:c.265+69414_265+69417del ENSP00000491057.1:n.265+69414_265+69417del
ENST00000640374.1:n.3946_3949del
ENST00000640464.1:n.1221_1224del
ENST00000405460.6:c.10802_10805del ENSP00000384582.2:p.Arg3601LysfsTer4
ENST00000509621.1:c.3499_3502del
NM_032119.3:c.10802_10805del NP_115495.3:p.Arg3601LysfsTer4
NR_003149.1:n.10815_10818del
XM_011543675.1:c.10799_10802del XP_011541977.1:p.Arg3600LysfsTer4
XM_011543676.1:c.10721_10724del XP_011541978.1:p.Arg3574LysfsTer4
XM_011543677.1:c.8105_8108del XP_011541979.1:p.Arg2702LysfsTer4
XM_011543678.1:c.10802_10805del XP_011541980.1:p.Arg3601LysfsTer4
XM_011543679.1:c.*24_*27del XP_011541981.1:n.*24_*27del
NM_032119.4:c.10802_10805del MANE Select NP_115495.3:p.Arg3601LysfsTer4
XM_017009963.2:c.10823_10826del XP_016865452.1:p.Arg3608LysfsTer4
XM_017009964.2:c.10820_10823del XP_016865453.1:p.Arg3607LysfsTer4
XM_017009965.1:c.10820_10823del XP_016865454.1:p.Arg3607LysfsTer4
XM_017009966.2:c.10742_10745del XP_016865455.1:p.Arg3581LysfsTer4
XM_017009967.1:c.10727_10730del XP_016865456.1:p.Arg3576LysfsTer4
XM_017009968.2:c.10823_10826del XP_016865457.1:p.Arg3608LysfsTer4
XM_017009969.2:c.10823_10826del XP_016865458.1:p.Arg3608LysfsTer4
XM_017009970.2:c.10823_10826del XP_016865459.1:p.Arg3608LysfsTer4
XM_017009971.2:c.10823_10826del XP_016865460.1:p.Arg3608LysfsTer4
XM_017009972.1:c.3941_3944del XP_016865461.1:p.Arg1314LysfsTer4
XM_017009973.1:c.3920_3923del XP_016865462.1:p.Arg1307LysfsTer4
XM_017009974.2:c.*24_*27del XP_016865463.1:n.*24_*27del
NR_003149.2:n.10818_10821del