Canonical Allele Identifier: CA2767424561
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823806_90823807del , CM000667.2:g.90823806_90823807del GRCh38
NC_000005.9:g.90119623_90119624del , CM000667.1:g.90119623_90119624del GRCh37
NC_000005.8:g.90155379_90155380del NCBI36
NG_007083.1:g.270007_270008del
NG_007083.2:g.299463_299464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.16368+210_16368+211del MANE Select ENSP00000384582.2:n.16368+210_16368+211del
ENST00000425867.3:c.5322+210_5322+211del ENSP00000392618.3:n.5322+210_5322+211del
ENST00000638510.1:n.3635+210_3635+211del
ENST00000639431.1:c.265+147597_265+147598del ENSP00000491057.1:n.265+147597_265+147598del
ENST00000640061.1:n.128+1624_128+1625del
ENST00000640407.1:c.2778+210_2778+211del ENSP00000491425.1:n.2778+210_2778+211del
ENST00000405460.6:c.16368+210_16368+211del ENSP00000384582.2:n.16368+210_16368+211del
ENST00000425867.2:c.3351+210_3351+211del ENSP00000392618.2:n.3351+210_3351+211del
NM_032119.3:c.16368+210_16368+211del NP_115495.3:n.16368+210_16368+211del
NR_003149.1:n.16381+210_16381+211del
XM_011543675.1:c.16365+210_16365+211del XP_011541977.1:n.16365+210_16365+211del
XM_011543676.1:c.16287+210_16287+211del XP_011541978.1:n.16287+210_16287+211del
XM_011543677.1:c.13671+210_13671+211del XP_011541979.1:n.13671+210_13671+211del
NM_032119.4:c.16368+210_16368+211del MANE Select NP_115495.3:n.16368+210_16368+211del
XM_017009963.2:c.16389+210_16389+211del XP_016865452.1:n.16389+210_16389+211del
XM_017009964.2:c.16386+210_16386+211del XP_016865453.1:n.16386+210_16386+211del
XM_017009965.1:c.16386+210_16386+211del XP_016865454.1:n.16386+210_16386+211del
XM_017009966.2:c.16308+210_16308+211del XP_016865455.1:n.16308+210_16308+211del
XM_017009967.1:c.16293+210_16293+211del XP_016865456.1:n.16293+210_16293+211del
XM_017009968.2:c.16209+210_16209+211del XP_016865457.1:n.16209+210_16209+211del
XM_017009969.2:c.16389+210_16389+211del XP_016865458.1:n.16389+210_16389+211del
XM_017009972.1:c.9507+210_9507+211del XP_016865461.1:n.9507+210_9507+211del
XM_017009973.1:c.9486+210_9486+211del XP_016865462.1:n.9486+210_9486+211del
NR_003149.2:n.16384+210_16384+211del