Canonical Allele Identifier: CA2578359378

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745625_90745626del , CM000667.2:g.90745625_90745626del	GRCh38
NC_000005.9:g.90041442_90041443del , CM000667.1:g.90041442_90041443del	GRCh37
NC_000005.8:g.90077198_90077199del	NCBI36
NG_007083.1:g.191826_191827del
NG_007083.2:g.221282_221283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10804_10805del MANE Select	ENSP00000384582.2:p.Glu3602SerfsTer9
ENST00000639431.1:c.265+69416_265+69417del	ENSP00000491057.1:n.265+69416_265+69417del
ENST00000640374.1:n.3948_3949del
ENST00000640464.1:n.1223_1224del
ENST00000405460.6:c.10804_10805del	ENSP00000384582.2:p.Glu3602SerfsTer9
ENST00000509621.1:c.3501_3502del
NM_032119.3:c.10804_10805del	NP_115495.3:p.Glu3602SerfsTer9
NR_003149.1:n.10817_10818del
XM_011543675.1:c.10801_10802del	XP_011541977.1:p.Glu3601SerfsTer9
XM_011543676.1:c.10723_10724del	XP_011541978.1:p.Glu3575SerfsTer9
XM_011543677.1:c.8107_8108del	XP_011541979.1:p.Glu2703SerfsTer9
XM_011543678.1:c.10804_10805del	XP_011541980.1:p.Glu3602SerfsTer9
XM_011543679.1:c.*26_*27del	XP_011541981.1:n.*26_*27del
NM_032119.4:c.10804_10805del MANE Select	NP_115495.3:p.Glu3602SerfsTer9
XM_017009963.2:c.10825_10826del	XP_016865452.1:p.Glu3609SerfsTer9
XM_017009964.2:c.10822_10823del	XP_016865453.1:p.Glu3608SerfsTer9
XM_017009965.1:c.10822_10823del	XP_016865454.1:p.Glu3608SerfsTer9
XM_017009966.2:c.10744_10745del	XP_016865455.1:p.Glu3582SerfsTer9
XM_017009967.1:c.10729_10730del	XP_016865456.1:p.Glu3577SerfsTer9
XM_017009968.2:c.10825_10826del	XP_016865457.1:p.Glu3609SerfsTer9
XM_017009969.2:c.10825_10826del	XP_016865458.1:p.Glu3609SerfsTer9
XM_017009970.2:c.10825_10826del	XP_016865459.1:p.Glu3609SerfsTer9
XM_017009971.2:c.10825_10826del	XP_016865460.1:p.Glu3609SerfsTer9
XM_017009972.1:c.3943_3944del	XP_016865461.1:p.Glu1315SerfsTer9
XM_017009973.1:c.3922_3923del	XP_016865462.1:p.Glu1308SerfsTer9
XM_017009974.2:c.*26_*27del	XP_016865463.1:n.*26_*27del
NR_003149.2:n.10820_10821del