Canonical Allele Identifier: CA2674574446

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763345-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763346del , CM000667.2:g.90763346del	GRCh38
NC_000005.9:g.90059163del , CM000667.1:g.90059163del	GRCh37
NC_000005.8:g.90094919del	NCBI36
NG_007083.1:g.209547del
NG_007083.2:g.239003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12162del MANE Select	ENSP00000384582.2:p.Tyr4055MetfsTer2
ENST00000425867.3:c.1116del	ENSP00000392618.3:p.Tyr373MetfsTer2
ENST00000639431.1:c.265+87137del	ENSP00000491057.1:n.265+87137del
ENST00000640464.1:n.2581del
ENST00000640729.1:n.739del
ENST00000405460.6:c.12162del	ENSP00000384582.2:p.Tyr4055MetfsTer2
NM_032119.3:c.12162del	NP_115495.3:p.Tyr4055MetfsTer2
NR_003149.1:n.12175del
XM_011543675.1:c.12159del	XP_011541977.1:p.Tyr4054MetfsTer2
XM_011543676.1:c.12081del	XP_011541978.1:p.Tyr4028MetfsTer2
XM_011543677.1:c.9465del	XP_011541979.1:p.Tyr3156MetfsTer2
XM_011543678.1:c.12162del	XP_011541980.1:p.Tyr4055MetfsTer2
NM_032119.4:c.12162del MANE Select	NP_115495.3:p.Tyr4055MetfsTer2
XM_017009963.2:c.12183del	XP_016865452.1:p.Tyr4062MetfsTer2
XM_017009964.2:c.12180del	XP_016865453.1:p.Tyr4061MetfsTer2
XM_017009965.1:c.12180del	XP_016865454.1:p.Tyr4061MetfsTer2
XM_017009966.2:c.12102del	XP_016865455.1:p.Tyr4035MetfsTer2
XM_017009967.1:c.12087del	XP_016865456.1:p.Tyr4030MetfsTer2
XM_017009968.2:c.12183del	XP_016865457.1:p.Tyr4062MetfsTer2
XM_017009969.2:c.12183del	XP_016865458.1:p.Tyr4062MetfsTer2
XM_017009970.2:c.12183del	XP_016865459.1:p.Tyr4062MetfsTer2
XM_017009971.2:c.12183del	XP_016865460.1:p.Tyr4062MetfsTer2
XM_017009972.1:c.5301del	XP_016865461.1:p.Tyr1768MetfsTer2
XM_017009973.1:c.5280del	XP_016865462.1:p.Tyr1761MetfsTer2
NR_003149.2:n.12178del