Canonical Allele Identifier: CA2674574380
Gene: ADGRV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90763285_90763290del , CM000667.2:g.90763285_90763290del GRCh38
NC_000005.9:g.90059102_90059107del , CM000667.1:g.90059102_90059107del GRCh37
NC_000005.8:g.90094858_90094863del NCBI36
NG_007083.1:g.209486_209491del
NG_007083.2:g.238942_238947del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.12121-20_12121-15del MANE Select ENSP00000384582.2:n.12121-20_12121-15del
ENST00000425867.3:c.1075-20_1075-15del ENSP00000392618.3:n.1075-20_1075-15del
ENST00000639431.1:c.265+87076_265+87081del ENSP00000491057.1:n.265+87076_265+87081del
ENST00000640464.1:n.2540-20_2540-15del
ENST00000640729.1:n.678_683del
ENST00000405460.6:c.12121-20_12121-15del ENSP00000384582.2:n.12121-20_12121-15del
NM_032119.3:c.12121-20_12121-15del NP_115495.3:n.12121-20_12121-15del
NR_003149.1:n.12134-20_12134-15del
XM_011543675.1:c.12118-20_12118-15del XP_011541977.1:n.12118-20_12118-15del
XM_011543676.1:c.12040-20_12040-15del XP_011541978.1:n.12040-20_12040-15del
XM_011543677.1:c.9424-20_9424-15del XP_011541979.1:n.9424-20_9424-15del
XM_011543678.1:c.12121-20_12121-15del XP_011541980.1:n.12121-20_12121-15del
NM_032119.4:c.12121-20_12121-15del MANE Select NP_115495.3:n.12121-20_12121-15del
XM_017009963.2:c.12142-20_12142-15del XP_016865452.1:n.12142-20_12142-15del
XM_017009964.2:c.12139-20_12139-15del XP_016865453.1:n.12139-20_12139-15del
XM_017009965.1:c.12139-20_12139-15del XP_016865454.1:n.12139-20_12139-15del
XM_017009966.2:c.12061-20_12061-15del XP_016865455.1:n.12061-20_12061-15del
XM_017009967.1:c.12046-20_12046-15del XP_016865456.1:n.12046-20_12046-15del
XM_017009968.2:c.12142-20_12142-15del XP_016865457.1:n.12142-20_12142-15del
XM_017009969.2:c.12142-20_12142-15del XP_016865458.1:n.12142-20_12142-15del
XM_017009970.2:c.12142-20_12142-15del XP_016865459.1:n.12142-20_12142-15del
XM_017009971.2:c.12142-20_12142-15del XP_016865460.1:n.12142-20_12142-15del
XM_017009972.1:c.5260-20_5260-15del XP_016865461.1:n.5260-20_5260-15del
XM_017009973.1:c.5239-20_5239-15del XP_016865462.1:n.5239-20_5239-15del
NR_003149.2:n.12137-20_12137-15del