Canonical Allele Identifier: CA2767405881
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90716730_90716731del , CM000667.2:g.90716730_90716731del GRCh38
NC_000005.9:g.90012547_90012548del , CM000667.1:g.90012547_90012548del GRCh37
NC_000005.8:g.90048303_90048304del NCBI36
NG_007083.1:g.162931_162932del
NG_007083.2:g.192387_192388del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.9447+1_9447+2del MANE Select ENSP00000384582.2:n.9447+1_9447+2del
ENST00000639431.1:c.265+40521_265+40522del ENSP00000491057.1:n.265+40521_265+40522del
ENST00000639473.1:n.4907_4908del
ENST00000640374.1:n.2591+1_2591+2del
ENST00000640779.1:c.4176+1_4176+2del
ENST00000405460.6:c.9447+1_9447+2del ENSP00000384582.2:n.9447+1_9447+2del
ENST00000509621.1:c.2144+1_2144+2del
NM_032119.3:c.9447+1_9447+2del NP_115495.3:n.9447+1_9447+2del
NR_003149.1:n.9460+1_9460+2del
XM_011543675.1:c.9444+1_9444+2del XP_011541977.1:n.9444+1_9444+2del
XM_011543676.1:c.9366+1_9366+2del XP_011541978.1:n.9366+1_9366+2del
XM_011543677.1:c.6750+1_6750+2del XP_011541979.1:n.6750+1_6750+2del
XM_011543678.1:c.9447+1_9447+2del XP_011541980.1:n.9447+1_9447+2del
XM_011543679.1:c.9447+1_9447+2del XP_011541981.1:n.9447+1_9447+2del
XR_948560.1:n.272-922_272-921del
NM_032119.4:c.9447+1_9447+2del MANE Select NP_115495.3:n.9447+1_9447+2del
XM_017009963.2:c.9468+1_9468+2del XP_016865452.1:n.9468+1_9468+2del
XM_017009964.2:c.9465+1_9465+2del XP_016865453.1:n.9465+1_9465+2del
XM_017009965.1:c.9465+1_9465+2del XP_016865454.1:n.9465+1_9465+2del
XM_017009966.2:c.9387+1_9387+2del XP_016865455.1:n.9387+1_9387+2del
XM_017009967.1:c.9372+1_9372+2del XP_016865456.1:n.9372+1_9372+2del
XM_017009968.2:c.9468+1_9468+2del XP_016865457.1:n.9468+1_9468+2del
XM_017009969.2:c.9468+1_9468+2del XP_016865458.1:n.9468+1_9468+2del
XM_017009970.2:c.9468+1_9468+2del XP_016865459.1:n.9468+1_9468+2del
XM_017009971.2:c.9468+1_9468+2del XP_016865460.1:n.9468+1_9468+2del
XM_017009972.1:c.2586+1_2586+2del XP_016865461.1:n.2586+1_2586+2del
XM_017009973.1:c.2565+1_2565+2del XP_016865462.1:n.2565+1_2565+2del
XM_017009974.2:c.9468+1_9468+2del XP_016865463.1:n.9468+1_9468+2del
XR_001742802.1:n.2523-922_2523-921del
NR_003149.2:n.9463+1_9463+2del