Canonical Allele Identifier: CA561259983

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1371066
• ClinVar RCV Id: RCV001864441
• dbSNP Id: rs1471607090
• gnomAD v2: 5-90050968-TAAAA-T
• gnomAD v4: 5-90755151-TAAAA-T
• MyVariant Identifiers: chr5:g.90050969_90050972del (hg19) ; chr5:g.90755152_90755155del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755152_90755155del , CM000667.2:g.90755152_90755155del	GRCh38
NC_000005.9:g.90050969_90050972del , CM000667.1:g.90050969_90050972del	GRCh37
NC_000005.8:g.90086725_90086728del	NCBI36
NG_007083.1:g.201353_201356del
NG_007083.2:g.230809_230812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11547_11550del MANE Select	ENSP00000384582.2:p.Ile3849MetfsTer28
ENST00000425867.3:c.678_681del	ENSP00000392618.3:p.Ile226MetfsTer26
ENST00000639431.1:c.265+78943_265+78946del	ENSP00000491057.1:n.265+78943_265+78946del
ENST00000640374.1:n.4691_4694del
ENST00000640464.1:n.1966_1969del
ENST00000405460.6:c.11547_11550del	ENSP00000384582.2:p.Ile3849MetfsTer28
ENST00000509621.1:c.4244_4247del
NM_032119.3:c.11547_11550del	NP_115495.3:p.Ile3849MetfsTer28
NR_003149.1:n.11560_11563del
XM_011543675.1:c.11544_11547del	XP_011541977.1:p.Ile3848MetfsTer28
XM_011543676.1:c.11466_11469del	XP_011541978.1:p.Ile3822MetfsTer28
XM_011543677.1:c.8850_8853del	XP_011541979.1:p.Ile2950MetfsTer28
XM_011543678.1:c.11547_11550del	XP_011541980.1:p.Ile3849MetfsTer28
NM_032119.4:c.11547_11550del MANE Select	NP_115495.3:p.Ile3849MetfsTer28
XM_017009963.2:c.11568_11571del	XP_016865452.1:p.Ile3856MetfsTer28
XM_017009964.2:c.11565_11568del	XP_016865453.1:p.Ile3855MetfsTer28
XM_017009965.1:c.11565_11568del	XP_016865454.1:p.Ile3855MetfsTer28
XM_017009966.2:c.11487_11490del	XP_016865455.1:p.Ile3829MetfsTer28
XM_017009967.1:c.11472_11475del	XP_016865456.1:p.Ile3824MetfsTer28
XM_017009968.2:c.11568_11571del	XP_016865457.1:p.Ile3856MetfsTer28
XM_017009969.2:c.11568_11571del	XP_016865458.1:p.Ile3856MetfsTer28
XM_017009970.2:c.11568_11571del	XP_016865459.1:p.Ile3856MetfsTer28
XM_017009971.2:c.11568_11571del	XP_016865460.1:p.Ile3856MetfsTer28
XM_017009972.1:c.4686_4689del	XP_016865461.1:p.Ile1562MetfsTer28
XM_017009973.1:c.4665_4668del	XP_016865462.1:p.Ile1555MetfsTer28
NR_003149.2:n.11563_11566del