Canonical Allele Identifier: CA2674547021
Gene: ADGRV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90716675del , CM000667.2:g.90716675del GRCh38
NC_000005.9:g.90012492del , CM000667.1:g.90012492del GRCh37
NC_000005.8:g.90048248del NCBI36
NG_007083.1:g.162876del
NG_007083.2:g.192332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.9393del MANE Select ENSP00000384582.2:p.Asp3132IlefsTer2
ENST00000639431.1:c.265+40466del ENSP00000491057.1:n.265+40466del
ENST00000639473.1:n.4852del
ENST00000640012.1:c.3200del
ENST00000640374.1:n.2537del
ENST00000640779.1:c.4122del
ENST00000405460.6:c.9393del ENSP00000384582.2:p.Asp3132IlefsTer2
ENST00000509621.1:c.2090del
NM_032119.3:c.9393del NP_115495.3:p.Asp3132IlefsTer2
NR_003149.1:n.9406del
XM_011543675.1:c.9390del XP_011541977.1:p.Asp3131IlefsTer2
XM_011543676.1:c.9312del XP_011541978.1:p.Asp3105IlefsTer2
XM_011543677.1:c.6696del XP_011541979.1:p.Asp2233IlefsTer2
XM_011543678.1:c.9393del XP_011541980.1:p.Asp3132IlefsTer2
XM_011543679.1:c.9393del XP_011541981.1:p.Asp3132IlefsTer2
XR_948560.1:n.272-864del
NM_032119.4:c.9393del MANE Select NP_115495.3:p.Asp3132IlefsTer2
XM_017009963.2:c.9414del XP_016865452.1:p.Asp3139IlefsTer2
XM_017009964.2:c.9411del XP_016865453.1:p.Asp3138IlefsTer2
XM_017009965.1:c.9411del XP_016865454.1:p.Asp3138IlefsTer2
XM_017009966.2:c.9333del XP_016865455.1:p.Asp3112IlefsTer2
XM_017009967.1:c.9318del XP_016865456.1:p.Asp3107IlefsTer2
XM_017009968.2:c.9414del XP_016865457.1:p.Asp3139IlefsTer2
XM_017009969.2:c.9414del XP_016865458.1:p.Asp3139IlefsTer2
XM_017009970.2:c.9414del XP_016865459.1:p.Asp3139IlefsTer2
XM_017009971.2:c.9414del XP_016865460.1:p.Asp3139IlefsTer2
XM_017009972.1:c.2532del XP_016865461.1:p.Asp845IlefsTer2
XM_017009973.1:c.2511del XP_016865462.1:p.Asp838IlefsTer2
XM_017009974.2:c.9414del XP_016865463.1:p.Asp3139IlefsTer2
XR_001742802.1:n.2523-864del
NR_003149.2:n.9409del