Canonical Allele Identifier: CA2767424540
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823671_90823681del , CM000667.2:g.90823671_90823681del GRCh38
NC_000005.9:g.90119488_90119498del , CM000667.1:g.90119488_90119498del GRCh37
NC_000005.8:g.90155244_90155254del NCBI36
NG_007083.1:g.269872_269882del
NG_007083.2:g.299328_299338del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.16368+75_16368+85del MANE Select ENSP00000384582.2:n.16368+75_16368+85del
ENST00000425867.3:c.5322+75_5322+85del ENSP00000392618.3:n.5322+75_5322+85del
ENST00000638510.1:n.3635+75_3635+85del
ENST00000639431.1:c.265+147462_265+147472del ENSP00000491057.1:n.265+147462_265+147472del
ENST00000640061.1:n.128+1489_128+1499del
ENST00000640407.1:c.2778+75_2778+85del ENSP00000491425.1:n.2778+75_2778+85del
ENST00000405460.6:c.16368+75_16368+85del ENSP00000384582.2:n.16368+75_16368+85del
ENST00000425867.2:c.3351+75_3351+85del ENSP00000392618.2:n.3351+75_3351+85del
NM_032119.3:c.16368+75_16368+85del NP_115495.3:n.16368+75_16368+85del
NR_003149.1:n.16381+75_16381+85del
XM_011543675.1:c.16365+75_16365+85del XP_011541977.1:n.16365+75_16365+85del
XM_011543676.1:c.16287+75_16287+85del XP_011541978.1:n.16287+75_16287+85del
XM_011543677.1:c.13671+75_13671+85del XP_011541979.1:n.13671+75_13671+85del
NM_032119.4:c.16368+75_16368+85del MANE Select NP_115495.3:n.16368+75_16368+85del
XM_017009963.2:c.16389+75_16389+85del XP_016865452.1:n.16389+75_16389+85del
XM_017009964.2:c.16386+75_16386+85del XP_016865453.1:n.16386+75_16386+85del
XM_017009965.1:c.16386+75_16386+85del XP_016865454.1:n.16386+75_16386+85del
XM_017009966.2:c.16308+75_16308+85del XP_016865455.1:n.16308+75_16308+85del
XM_017009967.1:c.16293+75_16293+85del XP_016865456.1:n.16293+75_16293+85del
XM_017009968.2:c.16209+75_16209+85del XP_016865457.1:n.16209+75_16209+85del
XM_017009969.2:c.16389+75_16389+85del XP_016865458.1:n.16389+75_16389+85del
XM_017009972.1:c.9507+75_9507+85del XP_016865461.1:n.9507+75_9507+85del
XM_017009973.1:c.9486+75_9486+85del XP_016865462.1:n.9486+75_9486+85del
NR_003149.2:n.16384+75_16384+85del