Canonical Allele Identifier: CA3340499

Gene: ADGRV1

Linked Data

• dbSNP Id: rs759272193
• ExAC: 5:90012553 TA / T
• gnomAD v2: 5-90012553-TA-T
• gnomAD v4: 5-90716736-TA-T
• MyVariant Identifiers: chr5:g.90012554del (hg19) ; chr5:g.90716737del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716738del , CM000667.2:g.90716738del	GRCh38
NC_000005.9:g.90012555del , CM000667.1:g.90012555del	GRCh37
NC_000005.8:g.90048311del	NCBI36
NG_007083.1:g.162939del
NG_007083.2:g.192395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9447+9del MANE Select	ENSP00000384582.2:n.9447+9del
ENST00000639431.1:c.265+40529del	ENSP00000491057.1:n.265+40529del
ENST00000639473.1:n.4915del
ENST00000640374.1:n.2591+9del
ENST00000640779.1:c.4176+9del
ENST00000405460.6:c.9447+9del	ENSP00000384582.2:n.9447+9del
ENST00000509621.1:c.2144+9del
NM_032119.3:c.9447+9del	NP_115495.3:n.9447+9del
NR_003149.1:n.9460+9del
XM_011543675.1:c.9444+9del	XP_011541977.1:n.9444+9del
XM_011543676.1:c.9366+9del	XP_011541978.1:n.9366+9del
XM_011543677.1:c.6750+9del	XP_011541979.1:n.6750+9del
XM_011543678.1:c.9447+9del	XP_011541980.1:n.9447+9del
XM_011543679.1:c.9447+9del	XP_011541981.1:n.9447+9del
XR_948560.1:n.272-928del
NM_032119.4:c.9447+9del MANE Select	NP_115495.3:n.9447+9del
XM_017009963.2:c.9468+9del	XP_016865452.1:n.9468+9del
XM_017009964.2:c.9465+9del	XP_016865453.1:n.9465+9del
XM_017009965.1:c.9465+9del	XP_016865454.1:n.9465+9del
XM_017009966.2:c.9387+9del	XP_016865455.1:n.9387+9del
XM_017009967.1:c.9372+9del	XP_016865456.1:n.9372+9del
XM_017009968.2:c.9468+9del	XP_016865457.1:n.9468+9del
XM_017009969.2:c.9468+9del	XP_016865458.1:n.9468+9del
XM_017009970.2:c.9468+9del	XP_016865459.1:n.9468+9del
XM_017009971.2:c.9468+9del	XP_016865460.1:n.9468+9del
XM_017009972.1:c.2586+9del	XP_016865461.1:n.2586+9del
XM_017009973.1:c.2565+9del	XP_016865462.1:n.2565+9del
XM_017009974.2:c.9468+9del	XP_016865463.1:n.9468+9del
XR_001742802.1:n.2523-928del
NR_003149.2:n.9463+9del