Canonical Allele Identifier: CA560898702

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1279808309
• gnomAD v2: 5-89913788-CCTT-C
• gnomAD v4: 5-90617971-CCTT-C
• MyVariant Identifiers: chr5:g.89913789_89913791del (hg19) ; chr5:g.90617972_90617974del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617972_90617974del , CM000667.2:g.90617972_90617974del	GRCh38
NC_000005.9:g.89913789_89913791del , CM000667.1:g.89913789_89913791del	GRCh37
NC_000005.8:g.89949545_89949547del	NCBI36
NG_007083.1:g.64173_64175del
NG_007083.2:g.93629_93631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.357+19_357+21del MANE Select	ENSP00000384582.2:n.357+19_357+21del
ENST00000638316.1:n.567+19_567+21del
ENST00000638638.1:n.764+19_764+21del
ENST00000640083.1:n.62+19_62+21del
ENST00000640109.1:n.453+19_453+21del
ENST00000640281.1:n.416+19_416+21del
ENST00000405460.6:c.357+19_357+21del	ENSP00000384582.2:n.357+19_357+21del
ENST00000508842.5:c.369+19_369+21del	ENSP00000425936.1:n.369+19_369+21del
NM_032119.3:c.357+19_357+21del	NP_115495.3:n.357+19_357+21del
NR_003149.1:n.453+19_453+21del
XM_011543675.1:c.357+19_357+21del	XP_011541977.1:n.357+19_357+21del
XM_011543676.1:c.357+19_357+21del	XP_011541978.1:n.357+19_357+21del
XM_011543678.1:c.357+19_357+21del	XP_011541980.1:n.357+19_357+21del
XM_011543679.1:c.357+19_357+21del	XP_011541981.1:n.357+19_357+21del
NM_032119.4:c.357+19_357+21del MANE Select	NP_115495.3:n.357+19_357+21del
XM_017009963.2:c.357+19_357+21del	XP_016865452.1:n.357+19_357+21del
XM_017009964.2:c.357+19_357+21del	XP_016865453.1:n.357+19_357+21del
XM_017009965.1:c.354+19_354+21del	XP_016865454.1:n.354+19_354+21del
XM_017009966.2:c.357+19_357+21del	XP_016865455.1:n.357+19_357+21del
XM_017009967.1:c.357+19_357+21del	XP_016865456.1:n.357+19_357+21del
XM_017009968.2:c.357+19_357+21del	XP_016865457.1:n.357+19_357+21del
XM_017009969.2:c.357+19_357+21del	XP_016865458.1:n.357+19_357+21del
XM_017009970.2:c.357+19_357+21del	XP_016865459.1:n.357+19_357+21del
XM_017009971.2:c.357+19_357+21del	XP_016865460.1:n.357+19_357+21del
XM_017009974.2:c.357+19_357+21del	XP_016865463.1:n.357+19_357+21del
NR_003149.2:n.456+19_456+21del