Canonical Allele Identifier: CA3338414

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 728591
• ClinVar RCV Id: RCV000903098
• dbSNP Id: rs776955896
• ExAC: 5:89913612 AT / A
• gnomAD v2: 5-89913612-AT-A
• gnomAD v3: 5-90617795-AT-A
• gnomAD v4: 5-90617795-AT-A
• MyVariant Identifiers: chr5:g.89913613del (hg19) ; chr5:g.90617796del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617798del , CM000667.2:g.90617798del	GRCh38
NC_000005.9:g.89913615del , CM000667.1:g.89913615del	GRCh37
NC_000005.8:g.89949371del	NCBI36
NG_007083.1:g.63999del
NG_007083.2:g.93455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.208-6del MANE Select	ENSP00000384582.2:n.208-6del
ENST00000638316.1:n.418-6del
ENST00000638638.1:n.609del
ENST00000640109.1:n.304-6del
ENST00000640281.1:n.267-6del
ENST00000405460.6:c.208-6del	ENSP00000384582.2:n.208-6del
ENST00000508842.5:c.220-6del	ENSP00000425936.1:n.220-6del
NM_032119.3:c.208-6del	NP_115495.3:n.208-6del
NR_003149.1:n.304-6del
XM_011543675.1:c.208-6del	XP_011541977.1:n.208-6del
XM_011543676.1:c.208-6del	XP_011541978.1:n.208-6del
XM_011543678.1:c.208-6del	XP_011541980.1:n.208-6del
XM_011543679.1:c.208-6del	XP_011541981.1:n.208-6del
NM_032119.4:c.208-6del MANE Select	NP_115495.3:n.208-6del
XM_017009963.2:c.208-6del	XP_016865452.1:n.208-6del
XM_017009964.2:c.208-6del	XP_016865453.1:n.208-6del
XM_017009965.1:c.205-6del	XP_016865454.1:n.205-6del
XM_017009966.2:c.208-6del	XP_016865455.1:n.208-6del
XM_017009967.1:c.208-6del	XP_016865456.1:n.208-6del
XM_017009968.2:c.208-6del	XP_016865457.1:n.208-6del
XM_017009969.2:c.208-6del	XP_016865458.1:n.208-6del
XM_017009970.2:c.208-6del	XP_016865459.1:n.208-6del
XM_017009971.2:c.208-6del	XP_016865460.1:n.208-6del
XM_017009974.2:c.208-6del	XP_016865463.1:n.208-6del
NR_003149.2:n.307-6del