Canonical Allele Identifier: CA815351894

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1412902412
• gnomAD v4: 5-90712294-A-AT
• MyVariant Identifiers: chr5:g.90008111_90008112insT (hg19) ; chr5:g.90712294_90712295insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712298dup , CM000667.2:g.90712298dup	GRCh38
NC_000005.9:g.90008115dup , CM000667.1:g.90008115dup	GRCh37
NC_000005.8:g.90043871dup	NCBI36
NG_007083.1:g.158499dup
NG_007083.2:g.187955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9054dup MANE Select	ENSP00000384582.2:p.Ala3019CysfsTer2
ENST00000639431.1:c.265+36089dup	ENSP00000491057.1:n.265+36089dup
ENST00000639473.1:n.4513dup
ENST00000640012.1:c.2861dup
ENST00000640374.1:n.2198dup
ENST00000640779.1:c.3783dup
ENST00000405460.6:c.9054dup	ENSP00000384582.2:p.Ala3019CysfsTer2
ENST00000509621.1:c.1751dup
NM_032119.3:c.9054dup	NP_115495.3:p.Ala3019CysfsTer2
NR_003149.1:n.9067dup
XM_011543675.1:c.9051dup	XP_011541977.1:p.Ala3018CysfsTer2
XM_011543676.1:c.8973dup	XP_011541978.1:p.Ala2992CysfsTer2
XM_011543677.1:c.6357dup	XP_011541979.1:p.Ala2120CysfsTer2
XM_011543678.1:c.9054dup	XP_011541980.1:p.Ala3019CysfsTer2
XM_011543679.1:c.9054dup	XP_011541981.1:p.Ala3019CysfsTer2
NM_032119.4:c.9054dup MANE Select	NP_115495.3:p.Ala3019CysfsTer2
XM_017009963.2:c.9075dup	XP_016865452.1:p.Ala3026CysfsTer2
XM_017009964.2:c.9072dup	XP_016865453.1:p.Ala3025CysfsTer2
XM_017009965.1:c.9072dup	XP_016865454.1:p.Ala3025CysfsTer2
XM_017009966.2:c.8994dup	XP_016865455.1:p.Ala2999CysfsTer2
XM_017009967.1:c.8979dup	XP_016865456.1:p.Ala2994CysfsTer2
XM_017009968.2:c.9075dup	XP_016865457.1:p.Ala3026CysfsTer2
XM_017009969.2:c.9075dup	XP_016865458.1:p.Ala3026CysfsTer2
XM_017009970.2:c.9075dup	XP_016865459.1:p.Ala3026CysfsTer2
XM_017009971.2:c.9075dup	XP_016865460.1:p.Ala3026CysfsTer2
XM_017009972.1:c.2193dup	XP_016865461.1:p.Ala732CysfsTer2
XM_017009973.1:c.2172dup	XP_016865462.1:p.Ala725CysfsTer2
XM_017009974.2:c.9075dup	XP_016865463.1:p.Ala3026CysfsTer2
NR_003149.2:n.9070dup