Canonical Allele Identifier: CA2674578316
Gene: ADGRV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823616_90823617del , CM000667.2:g.90823616_90823617del GRCh38
NC_000005.9:g.90119433_90119434del , CM000667.1:g.90119433_90119434del GRCh37
NC_000005.8:g.90155189_90155190del NCBI36
NG_007083.1:g.269817_269818del
NG_007083.2:g.299273_299274del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.16368+20_16368+21del MANE Select ENSP00000384582.2:n.16368+20_16368+21del
ENST00000425867.3:c.5322+20_5322+21del ENSP00000392618.3:n.5322+20_5322+21del
ENST00000638510.1:n.3635+20_3635+21del
ENST00000639431.1:c.265+147407_265+147408del ENSP00000491057.1:n.265+147407_265+147408del
ENST00000640061.1:n.128+1434_128+1435del
ENST00000640407.1:c.2778+20_2778+21del ENSP00000491425.1:n.2778+20_2778+21del
ENST00000405460.6:c.16368+20_16368+21del ENSP00000384582.2:n.16368+20_16368+21del
ENST00000425867.2:c.3351+20_3351+21del ENSP00000392618.2:n.3351+20_3351+21del
NM_032119.3:c.16368+20_16368+21del NP_115495.3:n.16368+20_16368+21del
NR_003149.1:n.16381+20_16381+21del
XM_011543675.1:c.16365+20_16365+21del XP_011541977.1:n.16365+20_16365+21del
XM_011543676.1:c.16287+20_16287+21del XP_011541978.1:n.16287+20_16287+21del
XM_011543677.1:c.13671+20_13671+21del XP_011541979.1:n.13671+20_13671+21del
NM_032119.4:c.16368+20_16368+21del MANE Select NP_115495.3:n.16368+20_16368+21del
XM_017009963.2:c.16389+20_16389+21del XP_016865452.1:n.16389+20_16389+21del
XM_017009964.2:c.16386+20_16386+21del XP_016865453.1:n.16386+20_16386+21del
XM_017009965.1:c.16386+20_16386+21del XP_016865454.1:n.16386+20_16386+21del
XM_017009966.2:c.16308+20_16308+21del XP_016865455.1:n.16308+20_16308+21del
XM_017009967.1:c.16293+20_16293+21del XP_016865456.1:n.16293+20_16293+21del
XM_017009968.2:c.16209+20_16209+21del XP_016865457.1:n.16209+20_16209+21del
XM_017009969.2:c.16389+20_16389+21del XP_016865458.1:n.16389+20_16389+21del
XM_017009972.1:c.9507+20_9507+21del XP_016865461.1:n.9507+20_9507+21del
XM_017009973.1:c.9486+20_9486+21del XP_016865462.1:n.9486+20_9486+21del
NR_003149.2:n.16384+20_16384+21del