Canonical Allele Identifier: CA2767415136
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90617934_90617938del , CM000667.2:g.90617934_90617938del GRCh38
NC_000005.9:g.89913751_89913755del , CM000667.1:g.89913751_89913755del GRCh37
NC_000005.8:g.89949507_89949511del NCBI36
NG_007083.1:g.64135_64139del
NG_007083.2:g.93591_93595del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.338_342del MANE Select ENSP00000384582.2:p.Ile113ThrfsTer27
ENST00000638316.1:n.548_552del
ENST00000638638.1:n.745_749del
ENST00000640083.1:n.43_47del
ENST00000640109.1:n.434_438del
ENST00000640281.1:n.397_401del
ENST00000405460.6:c.338_342del ENSP00000384582.2:p.Ile113ThrfsTer27
ENST00000508842.5:c.350_354del ENSP00000425936.1:p.Ile117ThrfsTer13
NM_032119.3:c.338_342del NP_115495.3:p.Ile113ThrfsTer27
NR_003149.1:n.434_438del
XM_011543675.1:c.338_342del XP_011541977.1:p.Ile113ThrfsTer27
XM_011543676.1:c.338_342del XP_011541978.1:p.Ile113ThrfsTer27
XM_011543678.1:c.338_342del XP_011541980.1:p.Ile113ThrfsTer27
XM_011543679.1:c.338_342del XP_011541981.1:p.Ile113ThrfsTer27
NM_032119.4:c.338_342del MANE Select NP_115495.3:p.Ile113ThrfsTer27
XM_017009963.2:c.338_342del XP_016865452.1:p.Ile113ThrfsTer27
XM_017009964.2:c.338_342del XP_016865453.1:p.Ile113ThrfsTer27
XM_017009965.1:c.335_339del XP_016865454.1:p.Ile112ThrfsTer27
XM_017009966.2:c.338_342del XP_016865455.1:p.Ile113ThrfsTer27
XM_017009967.1:c.338_342del XP_016865456.1:p.Ile113ThrfsTer13
XM_017009968.2:c.338_342del XP_016865457.1:p.Ile113ThrfsTer27
XM_017009969.2:c.338_342del XP_016865458.1:p.Ile113ThrfsTer27
XM_017009970.2:c.338_342del XP_016865459.1:p.Ile113ThrfsTer27
XM_017009971.2:c.338_342del XP_016865460.1:p.Ile113ThrfsTer27
XM_017009974.2:c.338_342del XP_016865463.1:p.Ile113ThrfsTer27
NR_003149.2:n.437_441del