Canonical Allele Identifier: CA2505509654
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90627267_90627270del , CM000667.2:g.90627267_90627270del GRCh38
NC_000005.9:g.89923084_89923087del , CM000667.1:g.89923084_89923087del GRCh37
NC_000005.8:g.89958840_89958843del NCBI36
NG_007083.1:g.73468_73471del
NG_007083.2:g.102924_102927del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.729_732del MANE Select ENSP00000384582.2:p.Glu244LeufsTer19
ENST00000640083.1:n.434_437del
ENST00000640109.1:n.825_828del
ENST00000640281.1:n.788_791del
ENST00000405460.6:c.729_732del ENSP00000384582.2:p.Glu244LeufsTer19
NM_032119.3:c.729_732del NP_115495.3:p.Glu244LeufsTer19
NR_003149.1:n.825_828del
XM_011543675.1:c.729_732del XP_011541977.1:p.Glu244LeufsTer19
XM_011543676.1:c.729_732del XP_011541978.1:p.Glu244LeufsTer19
XM_011543678.1:c.729_732del XP_011541980.1:p.Glu244LeufsTer19
XM_011543679.1:c.729_732del XP_011541981.1:p.Glu244LeufsTer19
NM_032119.4:c.729_732del MANE Select NP_115495.3:p.Glu244LeufsTer19
XM_017009963.2:c.729_732del XP_016865452.1:p.Glu244LeufsTer19
XM_017009964.2:c.729_732del XP_016865453.1:p.Glu244LeufsTer19
XM_017009965.1:c.726_729del XP_016865454.1:p.Glu243LeufsTer19
XM_017009966.2:c.729_732del XP_016865455.1:p.Glu244LeufsTer19
XM_017009967.1:c.633_636del XP_016865456.1:p.Glu212LeufsTer19
XM_017009968.2:c.729_732del XP_016865457.1:p.Glu244LeufsTer19
XM_017009969.2:c.729_732del XP_016865458.1:p.Glu244LeufsTer19
XM_017009970.2:c.729_732del XP_016865459.1:p.Glu244LeufsTer19
XM_017009971.2:c.729_732del XP_016865460.1:p.Glu244LeufsTer19
XM_017009974.2:c.729_732del XP_016865463.1:p.Glu244LeufsTer19
NR_003149.2:n.828_831del