Canonical Allele Identifier: CA1562873554
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 998790
ClinVar RCV Id: RCV001294692
dbSNP Id: rs1751659721

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90725564_90725566del , CM000667.2:g.90725564_90725566del GRCh38
NC_000005.9:g.90021381_90021383del , CM000667.1:g.90021381_90021383del GRCh37
NC_000005.8:g.90057137_90057139del NCBI36
NG_007083.1:g.171765_171767del
NG_007083.2:g.201221_201223del

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.10069_10071del MANE Select ENSP00000384582.2:p.Ile3357del
ENST00000639431.1:c.265+49355_265+49357del ENSP00000491057.1:n.265+49355_265+49357de...
ENST00000640374.1:n.3213_3215del
ENST00000640464.1:n.488_490del
ENST00000405460.6:c.10069_10071del ENSP00000384582.2:p.Ile3357del
ENST00000509621.1:c.2766_2768del
NM_032119.3:c.10069_10071del NP_115495.3:p.Ile3357del
NR_003149.1:n.10082_10084del
XM_011543675.1:c.10066_10068del XP_011541977.1:p.Ile3356del
XM_011543676.1:c.9988_9990del XP_011541978.1:p.Ile3330del
XM_011543677.1:c.7372_7374del XP_011541979.1:p.Ile2458del
XM_011543678.1:c.10069_10071del XP_011541980.1:p.Ile3357del
XM_011543679.1:c.10069_10071del XP_011541981.1:p.Ile3357del
XR_948560.1:n.272-9754_272-9752del
NM_032119.4:c.10069_10071del MANE Select NP_115495.3:p.Ile3357del
XM_017009963.2:c.10090_10092del XP_016865452.1:p.Ile3364del
XM_017009964.2:c.10087_10089del XP_016865453.1:p.Ile3363del
XM_017009965.1:c.10087_10089del XP_016865454.1:p.Ile3363del
XM_017009966.2:c.10009_10011del XP_016865455.1:p.Ile3337del
XM_017009967.1:c.9994_9996del XP_016865456.1:p.Ile3332del
XM_017009968.2:c.10090_10092del XP_016865457.1:p.Ile3364del
XM_017009969.2:c.10090_10092del XP_016865458.1:p.Ile3364del
XM_017009970.2:c.10090_10092del XP_016865459.1:p.Ile3364del
XM_017009971.2:c.10090_10092del XP_016865460.1:p.Ile3364del
XM_017009972.1:c.3208_3210del XP_016865461.1:p.Ile1070del
XM_017009973.1:c.3187_3189del XP_016865462.1:p.Ile1063del
XM_017009974.2:c.10090_10092del XP_016865463.1:p.Ile3364del
XR_001742802.1:n.2523-9754_2523-9752del
NR_003149.2:n.10085_10087del