Canonical Allele Identifier: CA561259982

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1337741087
• gnomAD v2: 5-90050927-TTATG-T
• gnomAD v3: 5-90755110-TTATG-T
• gnomAD v4: 5-90755110-TTATG-T
• MyVariant Identifiers: chr5:g.90050928_90050931del (hg19) ; chr5:g.90755111_90755114del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755114_90755117del , CM000667.2:g.90755114_90755117del	GRCh38
NC_000005.9:g.90050931_90050934del , CM000667.1:g.90050931_90050934del	GRCh37
NC_000005.8:g.90086687_90086690del	NCBI36
NG_007083.1:g.201315_201318del
NG_007083.2:g.230771_230774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11509_11512del MANE Select	ENSP00000384582.2:p.Val3837CysfsTer5
ENST00000425867.3:c.640_643del	ENSP00000392618.3:p.Val214CysfsTer5
ENST00000639431.1:c.265+78905_265+78908del	ENSP00000491057.1:n.265+78905_265+78908del
ENST00000640374.1:n.4653_4656del
ENST00000640464.1:n.1928_1931del
ENST00000405460.6:c.11509_11512del	ENSP00000384582.2:p.Val3837CysfsTer5
ENST00000509621.1:c.4206_4209del
NM_032119.3:c.11509_11512del	NP_115495.3:p.Val3837CysfsTer5
NR_003149.1:n.11522_11525del
XM_011543675.1:c.11506_11509del	XP_011541977.1:p.Val3836CysfsTer5
XM_011543676.1:c.11428_11431del	XP_011541978.1:p.Val3810CysfsTer5
XM_011543677.1:c.8812_8815del	XP_011541979.1:p.Val2938CysfsTer5
XM_011543678.1:c.11509_11512del	XP_011541980.1:p.Val3837CysfsTer5
NM_032119.4:c.11509_11512del MANE Select	NP_115495.3:p.Val3837CysfsTer5
XM_017009963.2:c.11530_11533del	XP_016865452.1:p.Val3844CysfsTer5
XM_017009964.2:c.11527_11530del	XP_016865453.1:p.Val3843CysfsTer5
XM_017009965.1:c.11527_11530del	XP_016865454.1:p.Val3843CysfsTer5
XM_017009966.2:c.11449_11452del	XP_016865455.1:p.Val3817CysfsTer5
XM_017009967.1:c.11434_11437del	XP_016865456.1:p.Val3812CysfsTer5
XM_017009968.2:c.11530_11533del	XP_016865457.1:p.Val3844CysfsTer5
XM_017009969.2:c.11530_11533del	XP_016865458.1:p.Val3844CysfsTer5
XM_017009970.2:c.11530_11533del	XP_016865459.1:p.Val3844CysfsTer5
XM_017009971.2:c.11530_11533del	XP_016865460.1:p.Val3844CysfsTer5
XM_017009972.1:c.4648_4651del	XP_016865461.1:p.Val1550CysfsTer5
XM_017009973.1:c.4627_4630del	XP_016865462.1:p.Val1543CysfsTer5
NR_003149.2:n.11525_11528del