Canonical Allele Identifier: CA916082747

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 866363
• ClinVar RCV Id: RCV001074287
• dbSNP Id: rs1754556067
• gnomAD v4: 5-90745759-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745761del , CM000667.2:g.90745761del	GRCh38
NC_000005.9:g.90041578del , CM000667.1:g.90041578del	GRCh37
NC_000005.8:g.90077334del	NCBI36
NG_007083.1:g.191962del
NG_007083.2:g.221418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10940del MANE Select	ENSP00000384582.2:p.Asn3647MetfsTer27
ENST00000425867.3:c.71del	ENSP00000392618.3:p.Asn24MetfsTer27
ENST00000639431.1:c.265+69552del	ENSP00000491057.1:n.265+69552del
ENST00000640374.1:n.4084del
ENST00000640464.1:n.1359del
ENST00000405460.6:c.10940del	ENSP00000384582.2:p.Asn3647MetfsTer27
ENST00000509621.1:c.3637del
NM_032119.3:c.10940del	NP_115495.3:p.Asn3647MetfsTer27
NR_003149.1:n.10953del
XM_011543675.1:c.10937del	XP_011541977.1:p.Asn3646MetfsTer27
XM_011543676.1:c.10859del	XP_011541978.1:p.Asn3620MetfsTer27
XM_011543677.1:c.8243del	XP_011541979.1:p.Asn2748MetfsTer27
XM_011543678.1:c.10940del	XP_011541980.1:p.Asn3647MetfsTer27
NM_032119.4:c.10940del MANE Select	NP_115495.3:p.Asn3647MetfsTer27
XM_017009963.2:c.10961del	XP_016865452.1:p.Asn3654MetfsTer27
XM_017009964.2:c.10958del	XP_016865453.1:p.Asn3653MetfsTer27
XM_017009965.1:c.10958del	XP_016865454.1:p.Asn3653MetfsTer27
XM_017009966.2:c.10880del	XP_016865455.1:p.Asn3627MetfsTer27
XM_017009967.1:c.10865del	XP_016865456.1:p.Asn3622MetfsTer27
XM_017009968.2:c.10961del	XP_016865457.1:p.Asn3654MetfsTer27
XM_017009969.2:c.10961del	XP_016865458.1:p.Asn3654MetfsTer27
XM_017009970.2:c.10961del	XP_016865459.1:p.Asn3654MetfsTer27
XM_017009971.2:c.10961del	XP_016865460.1:p.Asn3654MetfsTer27
XM_017009972.1:c.4079del	XP_016865461.1:p.Asn1360MetfsTer27
XM_017009973.1:c.4058del	XP_016865462.1:p.Asn1353MetfsTer27
NR_003149.2:n.10956del