Canonical Allele Identifier: CA253963
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90642653_90642665del , CM000667.2:g.90642653_90642665del GRCh38
NC_000005.9:g.89938470_89938482del , CM000667.1:g.89938470_89938482del GRCh37
NC_000005.8:g.89974226_89974238del NCBI36
NG_007083.1:g.88854_88866del
NG_007083.2:g.118310_118322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.2258_2270del MANE Select ENSP00000384582.2:p.Gln753LeufsTer8
ENST00000504142.2:n.1024_1036del
ENST00000640403.1:c.-440_-428del ENSP00000492531.1:n.-440_-428del
ENST00000405460.6:c.2258_2270del ENSP00000384582.2:p.Gln753LeufsTer8
ENST00000504142.1:c.1023_1035del
ENST00000512205.1:n.168_180del
NM_032119.3:c.2258_2270del NP_115495.3:p.Gln753LeufsTer8
NR_003149.1:n.2354_2366del
XM_011543675.1:c.2258_2270del XP_011541977.1:p.Gln753LeufsTer8
XM_011543676.1:c.2258_2270del XP_011541978.1:p.Gln753LeufsTer8
XM_011543677.1:c.-440_-428del XP_011541979.1:n.-440_-428del
XM_011543678.1:c.2258_2270del XP_011541980.1:p.Gln753LeufsTer8
XM_011543679.1:c.2258_2270del XP_011541981.1:p.Gln753LeufsTer8
NM_032119.4:c.2258_2270del MANE Select NP_115495.3:p.Gln753LeufsTer8
XM_017009963.2:c.2258_2270del XP_016865452.1:p.Gln753LeufsTer8
XM_017009964.2:c.2258_2270del XP_016865453.1:p.Gln753LeufsTer8
XM_017009965.1:c.2255_2267del XP_016865454.1:p.Gln752LeufsTer8
XM_017009966.2:c.2258_2270del XP_016865455.1:p.Gln753LeufsTer8
XM_017009967.1:c.2162_2174del XP_016865456.1:p.Gln721LeufsTer8
XM_017009968.2:c.2258_2270del XP_016865457.1:p.Gln753LeufsTer8
XM_017009969.2:c.2258_2270del XP_016865458.1:p.Gln753LeufsTer8
XM_017009970.2:c.2258_2270del XP_016865459.1:p.Gln753LeufsTer8
XM_017009971.2:c.2258_2270del XP_016865460.1:p.Gln753LeufsTer8
XM_017009974.2:c.2258_2270del XP_016865463.1:p.Gln753LeufsTer8
NR_003149.2:n.2357_2369del