Canonical Allele Identifier: CA2767420578
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90692845_90692846del , CM000667.2:g.90692845_90692846del GRCh38
NC_000005.9:g.89988662_89988663del , CM000667.1:g.89988662_89988663del GRCh37
NC_000005.8:g.90024418_90024419del NCBI36
NG_007083.1:g.139046_139047del
NG_007083.2:g.168502_168503del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.7133+59_7133+60del MANE Select ENSP00000384582.2:n.7133+59_7133+60del
ENST00000639431.1:c.265+16636_265+16637del ENSP00000491057.1:n.265+16636_265+16637del
ENST00000639473.1:n.2592+59_2592+60del
ENST00000640012.1:c.940+59_940+60del
ENST00000640374.1:n.277+59_277+60del
ENST00000640403.1:c.4424+59_4424+60del ENSP00000492531.1:n.4424+59_4424+60del
ENST00000640779.1:c.1862+59_1862+60del
ENST00000405460.6:c.7133+59_7133+60del ENSP00000384582.2:n.7133+59_7133+60del
NM_032119.3:c.7133+59_7133+60del NP_115495.3:n.7133+59_7133+60del
NR_003149.1:n.7146+59_7146+60del
XM_011543675.1:c.7130+59_7130+60del XP_011541977.1:n.7130+59_7130+60del
XM_011543676.1:c.7052+59_7052+60del XP_011541978.1:n.7052+59_7052+60del
XM_011543677.1:c.4436+59_4436+60del XP_011541979.1:n.4436+59_4436+60del
XM_011543678.1:c.7133+59_7133+60del XP_011541980.1:n.7133+59_7133+60del
XM_011543679.1:c.7133+59_7133+60del XP_011541981.1:n.7133+59_7133+60del
NM_032119.4:c.7133+59_7133+60del MANE Select NP_115495.3:n.7133+59_7133+60del
XM_017009963.2:c.7133+59_7133+60del XP_016865452.1:n.7133+59_7133+60del
XM_017009964.2:c.7130+59_7130+60del XP_016865453.1:n.7130+59_7130+60del
XM_017009965.1:c.7130+59_7130+60del XP_016865454.1:n.7130+59_7130+60del
XM_017009966.2:c.7052+59_7052+60del XP_016865455.1:n.7052+59_7052+60del
XM_017009967.1:c.7037+59_7037+60del XP_016865456.1:n.7037+59_7037+60del
XM_017009968.2:c.7133+59_7133+60del XP_016865457.1:n.7133+59_7133+60del
XM_017009969.2:c.7133+59_7133+60del XP_016865458.1:n.7133+59_7133+60del
XM_017009970.2:c.7133+59_7133+60del XP_016865459.1:n.7133+59_7133+60del
XM_017009971.2:c.7133+59_7133+60del XP_016865460.1:n.7133+59_7133+60del
XM_017009972.1:c.251+59_251+60del XP_016865461.1:n.251+59_251+60del
XM_017009973.1:c.251+59_251+60del XP_016865462.1:n.251+59_251+60del
XM_017009974.2:c.7133+59_7133+60del XP_016865463.1:n.7133+59_7133+60del
NR_003149.2:n.7149+59_7149+60del