Canonical Allele Identifier: CA3341155

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2981619
• ClinVar RCV Id: RCV003840201
• dbSNP Id: rs750427541
• ExAC: 5:90059109 TTTC / T
• gnomAD v2: 5-90059109-TTTC-T
• gnomAD v3: 5-90763292-TTTC-T
• gnomAD v4: 5-90763292-TTTC-T
• MyVariant Identifiers: chr5:g.90059110_90059112del (hg19) ; chr5:g.90763293_90763295del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763298_90763300del , CM000667.2:g.90763298_90763300del	GRCh38
NC_000005.9:g.90059115_90059117del , CM000667.1:g.90059115_90059117del	GRCh37
NC_000005.8:g.90094871_90094873del	NCBI36
NG_007083.1:g.209499_209501del
NG_007083.2:g.238955_238957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12121-7_12121-5del MANE Select	ENSP00000384582.2:n.12121-7_12121-5del
ENST00000425867.3:c.1075-7_1075-5del	ENSP00000392618.3:n.1075-7_1075-5del
ENST00000639431.1:c.265+87089_265+87091del	ENSP00000491057.1:n.265+87089_265+87091del
ENST00000640464.1:n.2540-7_2540-5del
ENST00000640729.1:n.691_693del
ENST00000405460.6:c.12121-7_12121-5del	ENSP00000384582.2:n.12121-7_12121-5del
NM_032119.3:c.12121-7_12121-5del	NP_115495.3:n.12121-7_12121-5del
NR_003149.1:n.12134-7_12134-5del
XM_011543675.1:c.12118-7_12118-5del	XP_011541977.1:n.12118-7_12118-5del
XM_011543676.1:c.12040-7_12040-5del	XP_011541978.1:n.12040-7_12040-5del
XM_011543677.1:c.9424-7_9424-5del	XP_011541979.1:n.9424-7_9424-5del
XM_011543678.1:c.12121-7_12121-5del	XP_011541980.1:n.12121-7_12121-5del
NM_032119.4:c.12121-7_12121-5del MANE Select	NP_115495.3:n.12121-7_12121-5del
XM_017009963.2:c.12142-7_12142-5del	XP_016865452.1:n.12142-7_12142-5del
XM_017009964.2:c.12139-7_12139-5del	XP_016865453.1:n.12139-7_12139-5del
XM_017009965.1:c.12139-7_12139-5del	XP_016865454.1:n.12139-7_12139-5del
XM_017009966.2:c.12061-7_12061-5del	XP_016865455.1:n.12061-7_12061-5del
XM_017009967.1:c.12046-7_12046-5del	XP_016865456.1:n.12046-7_12046-5del
XM_017009968.2:c.12142-7_12142-5del	XP_016865457.1:n.12142-7_12142-5del
XM_017009969.2:c.12142-7_12142-5del	XP_016865458.1:n.12142-7_12142-5del
XM_017009970.2:c.12142-7_12142-5del	XP_016865459.1:n.12142-7_12142-5del
XM_017009971.2:c.12142-7_12142-5del	XP_016865460.1:n.12142-7_12142-5del
XM_017009972.1:c.5260-7_5260-5del	XP_016865461.1:n.5260-7_5260-5del
XM_017009973.1:c.5239-7_5239-5del	XP_016865462.1:n.5239-7_5239-5del
NR_003149.2:n.12137-7_12137-5del