Canonical Allele Identifier: CA2697546241

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2749016
• ClinVar RCV Id: RCV003566267

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745748_90745749del , CM000667.2:g.90745748_90745749del	GRCh38
NC_000005.9:g.90041565_90041566del , CM000667.1:g.90041565_90041566del	GRCh37
NC_000005.8:g.90077321_90077322del	NCBI36
NG_007083.1:g.191949_191950del
NG_007083.2:g.221405_221406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10927_10928del MANE Select	ENSP00000384582.2:p.Thr3643HisfsTer4
ENST00000425867.3:c.58_59del	ENSP00000392618.3:p.Thr20HisfsTer4
ENST00000639431.1:c.265+69539_265+69540del	ENSP00000491057.1:n.265+69539_265+69540del
ENST00000640374.1:n.4071_4072del
ENST00000640464.1:n.1346_1347del
ENST00000405460.6:c.10927_10928del	ENSP00000384582.2:p.Thr3643HisfsTer4
ENST00000509621.1:c.3624_3625del
NM_032119.3:c.10927_10928del	NP_115495.3:p.Thr3643HisfsTer4
NR_003149.1:n.10940_10941del
XM_011543675.1:c.10924_10925del	XP_011541977.1:p.Thr3642HisfsTer4
XM_011543676.1:c.10846_10847del	XP_011541978.1:p.Thr3616HisfsTer4
XM_011543677.1:c.8230_8231del	XP_011541979.1:p.Thr2744HisfsTer4
XM_011543678.1:c.10927_10928del	XP_011541980.1:p.Thr3643HisfsTer4
NM_032119.4:c.10927_10928del MANE Select	NP_115495.3:p.Thr3643HisfsTer4
XM_017009963.2:c.10948_10949del	XP_016865452.1:p.Thr3650HisfsTer4
XM_017009964.2:c.10945_10946del	XP_016865453.1:p.Thr3649HisfsTer4
XM_017009965.1:c.10945_10946del	XP_016865454.1:p.Thr3649HisfsTer4
XM_017009966.2:c.10867_10868del	XP_016865455.1:p.Thr3623HisfsTer4
XM_017009967.1:c.10852_10853del	XP_016865456.1:p.Thr3618HisfsTer4
XM_017009968.2:c.10948_10949del	XP_016865457.1:p.Thr3650HisfsTer4
XM_017009969.2:c.10948_10949del	XP_016865458.1:p.Thr3650HisfsTer4
XM_017009970.2:c.10948_10949del	XP_016865459.1:p.Thr3650HisfsTer4
XM_017009971.2:c.10948_10949del	XP_016865460.1:p.Thr3650HisfsTer4
XM_017009972.1:c.4066_4067del	XP_016865461.1:p.Thr1356HisfsTer4
XM_017009973.1:c.4045_4046del	XP_016865462.1:p.Thr1349HisfsTer4
NR_003149.2:n.10943_10944del