Canonical Allele Identifier: CA1078666511

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1754536036
• gnomAD v3: 5-90745619-GAGAGAGA-G
• gnomAD v4: 5-90745619-GAGAGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745622_90745628del , CM000667.2:g.90745622_90745628del	GRCh38
NC_000005.9:g.90041439_90041445del , CM000667.1:g.90041439_90041445del	GRCh37
NC_000005.8:g.90077195_90077201del	NCBI36
NG_007083.1:g.191823_191829del
NG_007083.2:g.221279_221285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10801_10807del MANE Select	ENSP00000384582.2:p.Arg3601LeufsTer3
ENST00000639431.1:c.265+69413_265+69419del	ENSP00000491057.1:n.265+69413_265+69419del
ENST00000640374.1:n.3945_3951del
ENST00000640464.1:n.1220_1226del
ENST00000405460.6:c.10801_10807del	ENSP00000384582.2:p.Arg3601LeufsTer3
ENST00000509621.1:c.3498_3504del
NM_032119.3:c.10801_10807del	NP_115495.3:p.Arg3601LeufsTer3
NR_003149.1:n.10814_10820del
XM_011543675.1:c.10798_10804del	XP_011541977.1:p.Arg3600LeufsTer3
XM_011543676.1:c.10720_10726del	XP_011541978.1:p.Arg3574LeufsTer3
XM_011543677.1:c.8104_8110del	XP_011541979.1:p.Arg2702LeufsTer3
XM_011543678.1:c.10801_10807del	XP_011541980.1:p.Arg3601LeufsTer3
XM_011543679.1:c.*23_*29del	XP_011541981.1:n.*23_*29del
NM_032119.4:c.10801_10807del MANE Select	NP_115495.3:p.Arg3601LeufsTer3
XM_017009963.2:c.10822_10828del	XP_016865452.1:p.Arg3608LeufsTer3
XM_017009964.2:c.10819_10825del	XP_016865453.1:p.Arg3607LeufsTer3
XM_017009965.1:c.10819_10825del	XP_016865454.1:p.Arg3607LeufsTer3
XM_017009966.2:c.10741_10747del	XP_016865455.1:p.Arg3581LeufsTer3
XM_017009967.1:c.10726_10732del	XP_016865456.1:p.Arg3576LeufsTer3
XM_017009968.2:c.10822_10828del	XP_016865457.1:p.Arg3608LeufsTer3
XM_017009969.2:c.10822_10828del	XP_016865458.1:p.Arg3608LeufsTer3
XM_017009970.2:c.10822_10828del	XP_016865459.1:p.Arg3608LeufsTer3
XM_017009971.2:c.10822_10828del	XP_016865460.1:p.Arg3608LeufsTer3
XM_017009972.1:c.3940_3946del	XP_016865461.1:p.Arg1314LeufsTer3
XM_017009973.1:c.3919_3925del	XP_016865462.1:p.Arg1307LeufsTer3
XM_017009974.2:c.*23_*29del	XP_016865463.1:n.*23_*29del
NR_003149.2:n.10817_10823del