Canonical Allele Identifier: CA10581667
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90679609_90679612del , CM000667.2:g.90679609_90679612del GRCh38
NC_000005.9:g.89975426_89975429del , CM000667.1:g.89975426_89975429del GRCh37
NC_000005.8:g.90011182_90011185del NCBI36
NG_007083.1:g.125810_125813del
NG_007083.2:g.155266_155269del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.5504_5507del MANE Select ENSP00000384582.2:p.Leu1835GlnfsTer9
ENST00000639431.1:c.265+3400_265+3403del ENSP00000491057.1:n.265+3400_265+3403del
ENST00000639473.1:n.963_966del
ENST00000640403.1:c.2795_2798del ENSP00000492531.1:p.Leu932GlnfsTer9
ENST00000640779.1:c.316_319del
ENST00000405460.6:c.5504_5507del ENSP00000384582.2:p.Leu1835GlnfsTer9
NM_032119.3:c.5504_5507del NP_115495.3:p.Leu1835GlnfsTer9
NR_003149.1:n.5600_5603del
XM_011543675.1:c.5501_5504del XP_011541977.1:p.Leu1834GlnfsTer9
XM_011543676.1:c.5444-1706_5444-1703del XP_011541978.1:n.5444-1706_5444-1703del
XM_011543677.1:c.2807_2810del XP_011541979.1:p.Leu936GlnfsTer9
XM_011543678.1:c.5504_5507del XP_011541980.1:p.Leu1835GlnfsTer9
XM_011543679.1:c.5504_5507del XP_011541981.1:p.Leu1835GlnfsTer9
NM_032119.4:c.5504_5507del MANE Select NP_115495.3:p.Leu1835GlnfsTer9
XM_017009963.2:c.5504_5507del XP_016865452.1:p.Leu1835GlnfsTer9
XM_017009964.2:c.5501_5504del XP_016865453.1:p.Leu1834GlnfsTer9
XM_017009965.1:c.5501_5504del XP_016865454.1:p.Leu1834GlnfsTer9
XM_017009966.2:c.5444-1706_5444-1703del XP_016865455.1:n.5444-1706_5444-1703del
XM_017009967.1:c.5408_5411del XP_016865456.1:p.Leu1803GlnfsTer9
XM_017009968.2:c.5504_5507del XP_016865457.1:p.Leu1835GlnfsTer9
XM_017009969.2:c.5504_5507del XP_016865458.1:p.Leu1835GlnfsTer9
XM_017009970.2:c.5504_5507del XP_016865459.1:p.Leu1835GlnfsTer9
XM_017009971.2:c.5504_5507del XP_016865460.1:p.Leu1835GlnfsTer9
XM_017009973.1:c.-1296_-1293del XP_016865462.1:n.-1296_-1293del
XM_017009974.2:c.5504_5507del XP_016865463.1:p.Leu1835GlnfsTer9
NR_003149.2:n.5603_5606del