Canonical Allele Identifier: CA2767415169
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90618002_90618003del , CM000667.2:g.90618002_90618003del GRCh38
NC_000005.9:g.89913819_89913820del , CM000667.1:g.89913819_89913820del GRCh37
NC_000005.8:g.89949575_89949576del NCBI36
NG_007083.1:g.64203_64204del
NG_007083.2:g.93659_93660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.357+49_357+50del MANE Select ENSP00000384582.2:n.357+49_357+50del
ENST00000638316.1:n.567+49_567+50del
ENST00000638638.1:n.764+49_764+50del
ENST00000640083.1:n.62+49_62+50del
ENST00000640109.1:n.453+49_453+50del
ENST00000640281.1:n.416+49_416+50del
ENST00000405460.6:c.357+49_357+50del ENSP00000384582.2:n.357+49_357+50del
ENST00000508842.5:c.369+49_369+50del ENSP00000425936.1:n.369+49_369+50del
NM_032119.3:c.357+49_357+50del NP_115495.3:n.357+49_357+50del
NR_003149.1:n.453+49_453+50del
XM_011543675.1:c.357+49_357+50del XP_011541977.1:n.357+49_357+50del
XM_011543676.1:c.357+49_357+50del XP_011541978.1:n.357+49_357+50del
XM_011543678.1:c.357+49_357+50del XP_011541980.1:n.357+49_357+50del
XM_011543679.1:c.357+49_357+50del XP_011541981.1:n.357+49_357+50del
NM_032119.4:c.357+49_357+50del MANE Select NP_115495.3:n.357+49_357+50del
XM_017009963.2:c.357+49_357+50del XP_016865452.1:n.357+49_357+50del
XM_017009964.2:c.357+49_357+50del XP_016865453.1:n.357+49_357+50del
XM_017009965.1:c.354+49_354+50del XP_016865454.1:n.354+49_354+50del
XM_017009966.2:c.357+49_357+50del XP_016865455.1:n.357+49_357+50del
XM_017009967.1:c.357+49_357+50del XP_016865456.1:n.357+49_357+50del
XM_017009968.2:c.357+49_357+50del XP_016865457.1:n.357+49_357+50del
XM_017009969.2:c.357+49_357+50del XP_016865458.1:n.357+49_357+50del
XM_017009970.2:c.357+49_357+50del XP_016865459.1:n.357+49_357+50del
XM_017009971.2:c.357+49_357+50del XP_016865460.1:n.357+49_357+50del
XM_017009974.2:c.357+49_357+50del XP_016865463.1:n.357+49_357+50del
NR_003149.2:n.456+49_456+50del