Canonical Allele Identifier: CA2580613607
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1143451
ClinVar RCV Id: RCV001481623
dbSNP Id: rs2149632979

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90692795_90692796del , CM000667.2:g.90692795_90692796del GRCh38
NC_000005.9:g.89988612_89988613del , CM000667.1:g.89988612_89988613del GRCh37
NC_000005.8:g.90024368_90024369del NCBI36
NG_007083.1:g.138996_138997del
NG_007083.2:g.168452_168453del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.7133+9_7133+10del MANE Select ENSP00000384582.2:n.7133+9_7133+10del
ENST00000639431.1:c.265+16586_265+16587del ENSP00000491057.1:n.265+16586_265+16587del
ENST00000639473.1:n.2592+9_2592+10del
ENST00000640012.1:c.940+9_940+10del
ENST00000640374.1:n.277+9_277+10del
ENST00000640403.1:c.4424+9_4424+10del ENSP00000492531.1:n.4424+9_4424+10del
ENST00000640779.1:c.1862+9_1862+10del
ENST00000405460.6:c.7133+9_7133+10del ENSP00000384582.2:n.7133+9_7133+10del
NM_032119.3:c.7133+9_7133+10del NP_115495.3:n.7133+9_7133+10del
NR_003149.1:n.7146+9_7146+10del
XM_011543675.1:c.7130+9_7130+10del XP_011541977.1:n.7130+9_7130+10del
XM_011543676.1:c.7052+9_7052+10del XP_011541978.1:n.7052+9_7052+10del
XM_011543677.1:c.4436+9_4436+10del XP_011541979.1:n.4436+9_4436+10del
XM_011543678.1:c.7133+9_7133+10del XP_011541980.1:n.7133+9_7133+10del
XM_011543679.1:c.7133+9_7133+10del XP_011541981.1:n.7133+9_7133+10del
NM_032119.4:c.7133+9_7133+10del MANE Select NP_115495.3:n.7133+9_7133+10del
XM_017009963.2:c.7133+9_7133+10del XP_016865452.1:n.7133+9_7133+10del
XM_017009964.2:c.7130+9_7130+10del XP_016865453.1:n.7130+9_7130+10del
XM_017009965.1:c.7130+9_7130+10del XP_016865454.1:n.7130+9_7130+10del
XM_017009966.2:c.7052+9_7052+10del XP_016865455.1:n.7052+9_7052+10del
XM_017009967.1:c.7037+9_7037+10del XP_016865456.1:n.7037+9_7037+10del
XM_017009968.2:c.7133+9_7133+10del XP_016865457.1:n.7133+9_7133+10del
XM_017009969.2:c.7133+9_7133+10del XP_016865458.1:n.7133+9_7133+10del
XM_017009970.2:c.7133+9_7133+10del XP_016865459.1:n.7133+9_7133+10del
XM_017009971.2:c.7133+9_7133+10del XP_016865460.1:n.7133+9_7133+10del
XM_017009972.1:c.251+9_251+10del XP_016865461.1:n.251+9_251+10del
XM_017009973.1:c.251+9_251+10del XP_016865462.1:n.251+9_251+10del
XM_017009974.2:c.7133+9_7133+10del XP_016865463.1:n.7133+9_7133+10del
NR_003149.2:n.7149+9_7149+10del