Canonical Allele Identifier: CA122800343

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1241710
• ClinVar RCV Id: RCV001645455
• dbSNP Id: rs151260872
• gnomAD v2: 5-90058972-T-TA
• gnomAD v3: 5-90763155-T-TA
• gnomAD v4: 5-90763155-T-TA
• MyVariant Identifiers: chr5:g.90058972_90058973insA (hg19) ; chr5:g.90763155_90763156insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763163dup , CM000667.2:g.90763163dup	GRCh38
NC_000005.9:g.90058980dup , CM000667.1:g.90058980dup	GRCh37
NC_000005.8:g.90094736dup	NCBI36
NG_007083.1:g.209364dup
NG_007083.2:g.238820dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12121-142dup MANE Select	ENSP00000384582.2:n.12121-142dup
ENST00000425867.3:c.1075-142dup	ENSP00000392618.3:n.1075-142dup
ENST00000639431.1:c.265+86954dup	ENSP00000491057.1:n.265+86954dup
ENST00000640464.1:n.2540-142dup
ENST00000640729.1:n.556dup
ENST00000405460.6:c.12121-142dup	ENSP00000384582.2:n.12121-142dup
NM_032119.3:c.12121-142dup	NP_115495.3:n.12121-142dup
NR_003149.1:n.12134-142dup
XM_011543675.1:c.12118-142dup	XP_011541977.1:n.12118-142dup
XM_011543676.1:c.12040-142dup	XP_011541978.1:n.12040-142dup
XM_011543677.1:c.9424-142dup	XP_011541979.1:n.9424-142dup
XM_011543678.1:c.12121-142dup	XP_011541980.1:n.12121-142dup
NM_032119.4:c.12121-142dup MANE Select	NP_115495.3:n.12121-142dup
XM_017009963.2:c.12142-142dup	XP_016865452.1:n.12142-142dup
XM_017009964.2:c.12139-142dup	XP_016865453.1:n.12139-142dup
XM_017009965.1:c.12139-142dup	XP_016865454.1:n.12139-142dup
XM_017009966.2:c.12061-142dup	XP_016865455.1:n.12061-142dup
XM_017009967.1:c.12046-142dup	XP_016865456.1:n.12046-142dup
XM_017009968.2:c.12142-142dup	XP_016865457.1:n.12142-142dup
XM_017009969.2:c.12142-142dup	XP_016865458.1:n.12142-142dup
XM_017009970.2:c.12142-142dup	XP_016865459.1:n.12142-142dup
XM_017009971.2:c.12142-142dup	XP_016865460.1:n.12142-142dup
XM_017009972.1:c.5260-142dup	XP_016865461.1:n.5260-142dup
XM_017009973.1:c.5239-142dup	XP_016865462.1:n.5239-142dup
NR_003149.2:n.12137-142dup