Allele Registry

Canonical Allele Identifier: CA275107

Gene: ADGRV1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.90658228del

GRCh37 chr5:g.89954045del

Linked Data - Sequence & Population

gnomAD v4:

chr5-90658222-CA-C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000176234

ClinVar Variation:

195625

dbSNP:

794727347

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90658228del , CM000667.2:g.90658228del	GRCh38
NC_000005.9:g.89954045del , CM000667.1:g.89954045del	GRCh37
NC_000005.8:g.89989801del	NCBI36
NG_007083.1:g.104429del
NG_007083.2:g.133885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.4702del MANE Select	ENSP00000384582.2:p.Ser1568ValfsTer?
ENST00000639473.1:n.161del
ENST00000639676.1:n.2300del
ENST00000640403.1:c.1993del	ENSP00000492531.1:p.Ser665ValfsTer?
ENST00000405460.6:c.4702del	ENSP00000384582.2:p.Ser1568ValfsTer?
NM_032119.3:c.4702del	NP_115495.3:p.Ser1568ValfsTer?
NR_003149.1:n.4798del
XM_011543675.1:c.4702del	XP_011541977.1:p.Ser1568ValfsTer?
XM_011543676.1:c.4702del	XP_011541978.1:p.Ser1568ValfsTer?
XM_011543677.1:c.2005del	XP_011541979.1:p.Ser669ValfsTer?
XM_011543678.1:c.4702del	XP_011541980.1:p.Ser1568ValfsTer?
XM_011543679.1:c.4702del	XP_011541981.1:p.Ser1568ValfsTer?
NM_032119.4:c.4702del MANE Select	NP_115495.3:p.Ser1568ValfsTer?
XM_017009963.2:c.4702del	XP_016865452.1:p.Ser1568ValfsTer?
XM_017009964.2:c.4702del	XP_016865453.1:p.Ser1568ValfsTer?
XM_017009965.1:c.4699del	XP_016865454.1:p.Ser1567ValfsTer?
XM_017009966.2:c.4702del	XP_016865455.1:p.Ser1568ValfsTer?
XM_017009967.1:c.4606del	XP_016865456.1:p.Ser1536ValfsTer?
XM_017009968.2:c.4702del	XP_016865457.1:p.Ser1568ValfsTer?
XM_017009969.2:c.4702del	XP_016865458.1:p.Ser1568ValfsTer?
XM_017009970.2:c.4702del	XP_016865459.1:p.Ser1568ValfsTer?
XM_017009971.2:c.4702del	XP_016865460.1:p.Ser1568ValfsTer?
XM_017009974.2:c.4702del	XP_016865463.1:p.Ser1568ValfsTer?
NR_003149.2:n.4801del

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