Canonical Allele Identifier: CA2739274927

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2840447
• ClinVar RCV Id: RCV003716351

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617877_90617878del , CM000667.2:g.90617877_90617878del	GRCh38
NC_000005.9:g.89913694_89913695del , CM000667.1:g.89913694_89913695del	GRCh37
NC_000005.8:g.89949450_89949451del	NCBI36
NG_007083.1:g.64078_64079del
NG_007083.2:g.93534_93535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.281_282del MANE Select	ENSP00000384582.2:p.Arg94AsnfsTer8
ENST00000638316.1:n.491_492del
ENST00000638638.1:n.688_689del
ENST00000640109.1:n.377_378del
ENST00000640281.1:n.340_341del
ENST00000405460.6:c.281_282del	ENSP00000384582.2:p.Arg94AsnfsTer8
ENST00000508842.5:c.293_294del	ENSP00000425936.1:p.Arg98AsnfsTer8
NM_032119.3:c.281_282del	NP_115495.3:p.Arg94AsnfsTer8
NR_003149.1:n.377_378del
XM_011543675.1:c.281_282del	XP_011541977.1:p.Arg94AsnfsTer8
XM_011543676.1:c.281_282del	XP_011541978.1:p.Arg94AsnfsTer8
XM_011543678.1:c.281_282del	XP_011541980.1:p.Arg94AsnfsTer8
XM_011543679.1:c.281_282del	XP_011541981.1:p.Arg94AsnfsTer8
NM_032119.4:c.281_282del MANE Select	NP_115495.3:p.Arg94AsnfsTer8
XM_017009963.2:c.281_282del	XP_016865452.1:p.Arg94AsnfsTer8
XM_017009964.2:c.281_282del	XP_016865453.1:p.Arg94AsnfsTer8
XM_017009965.1:c.278_279del	XP_016865454.1:p.Arg93AsnfsTer8
XM_017009966.2:c.281_282del	XP_016865455.1:p.Arg94AsnfsTer8
XM_017009967.1:c.281_282del	XP_016865456.1:p.Arg94AsnfsTer8
XM_017009968.2:c.281_282del	XP_016865457.1:p.Arg94AsnfsTer8
XM_017009969.2:c.281_282del	XP_016865458.1:p.Arg94AsnfsTer8
XM_017009970.2:c.281_282del	XP_016865459.1:p.Arg94AsnfsTer8
XM_017009971.2:c.281_282del	XP_016865460.1:p.Arg94AsnfsTer8
XM_017009974.2:c.281_282del	XP_016865463.1:p.Arg94AsnfsTer8
NR_003149.2:n.380_381del