Canonical Allele Identifier: CA1078669783

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 961245
• ClinVar RCV Id: RCV001234907
• dbSNP Id: rs1755693558
• gnomAD v3: 5-90755127-CA-C
• gnomAD v4: 5-90755127-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755129del , CM000667.2:g.90755129del	GRCh38
NC_000005.9:g.90050946del , CM000667.1:g.90050946del	GRCh37
NC_000005.8:g.90086702del	NCBI36
NG_007083.1:g.201330del
NG_007083.2:g.230786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11524del MANE Select	ENSP00000384582.2:p.Ile3842Ter
ENST00000425867.3:c.655del	ENSP00000392618.3:p.Ile219Ter
ENST00000639431.1:c.265+78920del	ENSP00000491057.1:n.265+78920del
ENST00000640374.1:n.4668del
ENST00000640464.1:n.1943del
ENST00000405460.6:c.11524del	ENSP00000384582.2:p.Ile3842Ter
ENST00000509621.1:c.4221del
NM_032119.3:c.11524del	NP_115495.3:p.Ile3842Ter
NR_003149.1:n.11537del
XM_011543675.1:c.11521del	XP_011541977.1:p.Ile3841Ter
XM_011543676.1:c.11443del	XP_011541978.1:p.Ile3815Ter
XM_011543677.1:c.8827del	XP_011541979.1:p.Ile2943Ter
XM_011543678.1:c.11524del	XP_011541980.1:p.Ile3842Ter
NM_032119.4:c.11524del MANE Select	NP_115495.3:p.Ile3842Ter
XM_017009963.2:c.11545del	XP_016865452.1:p.Ile3849Ter
XM_017009964.2:c.11542del	XP_016865453.1:p.Ile3848Ter
XM_017009965.1:c.11542del	XP_016865454.1:p.Ile3848Ter
XM_017009966.2:c.11464del	XP_016865455.1:p.Ile3822Ter
XM_017009967.1:c.11449del	XP_016865456.1:p.Ile3817Ter
XM_017009968.2:c.11545del	XP_016865457.1:p.Ile3849Ter
XM_017009969.2:c.11545del	XP_016865458.1:p.Ile3849Ter
XM_017009970.2:c.11545del	XP_016865459.1:p.Ile3849Ter
XM_017009971.2:c.11545del	XP_016865460.1:p.Ile3849Ter
XM_017009972.1:c.4663del	XP_016865461.1:p.Ile1555Ter
XM_017009973.1:c.4642del	XP_016865462.1:p.Ile1548Ter
NR_003149.2:n.11540del