Canonical Allele Identifier: CA2767419430

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755120_90755121del , CM000667.2:g.90755120_90755121del	GRCh38
NC_000005.9:g.90050937_90050938del , CM000667.1:g.90050937_90050938del	GRCh37
NC_000005.8:g.90086693_90086694del	NCBI36
NG_007083.1:g.201321_201322del
NG_007083.2:g.230777_230778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11515_11516del MANE Select	ENSP00000384582.2:p.Gln3839ArgfsTer23
ENST00000425867.3:c.646_647del	ENSP00000392618.3:p.Gln216ArgfsTer?
ENST00000639431.1:c.265+78911_265+78912del	ENSP00000491057.1:n.265+78911_265+78912del
ENST00000640374.1:n.4659_4660del
ENST00000640464.1:n.1934_1935del
ENST00000405460.6:c.11515_11516del	ENSP00000384582.2:p.Gln3839ArgfsTer23
ENST00000509621.1:c.4212_4213del
NM_032119.3:c.11515_11516del	NP_115495.3:p.Gln3839ArgfsTer23
NR_003149.1:n.11528_11529del
XM_011543675.1:c.11512_11513del	XP_011541977.1:p.Gln3838ArgfsTer23
XM_011543676.1:c.11434_11435del	XP_011541978.1:p.Gln3812ArgfsTer23
XM_011543677.1:c.8818_8819del	XP_011541979.1:p.Gln2940ArgfsTer23
XM_011543678.1:c.11515_11516del	XP_011541980.1:p.Gln3839ArgfsTer23
NM_032119.4:c.11515_11516del MANE Select	NP_115495.3:p.Gln3839ArgfsTer23
XM_017009963.2:c.11536_11537del	XP_016865452.1:p.Gln3846ArgfsTer23
XM_017009964.2:c.11533_11534del	XP_016865453.1:p.Gln3845ArgfsTer23
XM_017009965.1:c.11533_11534del	XP_016865454.1:p.Gln3845ArgfsTer23
XM_017009966.2:c.11455_11456del	XP_016865455.1:p.Gln3819ArgfsTer23
XM_017009967.1:c.11440_11441del	XP_016865456.1:p.Gln3814ArgfsTer23
XM_017009968.2:c.11536_11537del	XP_016865457.1:p.Gln3846ArgfsTer23
XM_017009969.2:c.11536_11537del	XP_016865458.1:p.Gln3846ArgfsTer23
XM_017009970.2:c.11536_11537del	XP_016865459.1:p.Gln3846ArgfsTer23
XM_017009971.2:c.11536_11537del	XP_016865460.1:p.Gln3846ArgfsTer23
XM_017009972.1:c.4654_4655del	XP_016865461.1:p.Gln1552ArgfsTer23
XM_017009973.1:c.4633_4634del	XP_016865462.1:p.Gln1545ArgfsTer23
NR_003149.2:n.11531_11532del