Canonical Allele Identifier: CA2674570967

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755127-CAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755137_90755139del , CM000667.2:g.90755137_90755139del	GRCh38
NC_000005.9:g.90050954_90050956del , CM000667.1:g.90050954_90050956del	GRCh37
NC_000005.8:g.90086710_90086712del	NCBI36
NG_007083.1:g.201338_201340del
NG_007083.2:g.230794_230796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11532_11534del MANE Select	ENSP00000384582.2:p.Ile3844del
ENST00000425867.3:c.663_665del	ENSP00000392618.3:p.Ile221del
ENST00000639431.1:c.265+78928_265+78930del	ENSP00000491057.1:n.265+78928_265+78930del
ENST00000640374.1:n.4676_4678del
ENST00000640464.1:n.1951_1953del
ENST00000405460.6:c.11532_11534del	ENSP00000384582.2:p.Ile3844del
ENST00000509621.1:c.4229_4231del
NM_032119.3:c.11532_11534del	NP_115495.3:p.Ile3844del
NR_003149.1:n.11545_11547del
XM_011543675.1:c.11529_11531del	XP_011541977.1:p.Ile3843del
XM_011543676.1:c.11451_11453del	XP_011541978.1:p.Ile3817del
XM_011543677.1:c.8835_8837del	XP_011541979.1:p.Ile2945del
XM_011543678.1:c.11532_11534del	XP_011541980.1:p.Ile3844del
NM_032119.4:c.11532_11534del MANE Select	NP_115495.3:p.Ile3844del
XM_017009963.2:c.11553_11555del	XP_016865452.1:p.Ile3851del
XM_017009964.2:c.11550_11552del	XP_016865453.1:p.Ile3850del
XM_017009965.1:c.11550_11552del	XP_016865454.1:p.Ile3850del
XM_017009966.2:c.11472_11474del	XP_016865455.1:p.Ile3824del
XM_017009967.1:c.11457_11459del	XP_016865456.1:p.Ile3819del
XM_017009968.2:c.11553_11555del	XP_016865457.1:p.Ile3851del
XM_017009969.2:c.11553_11555del	XP_016865458.1:p.Ile3851del
XM_017009970.2:c.11553_11555del	XP_016865459.1:p.Ile3851del
XM_017009971.2:c.11553_11555del	XP_016865460.1:p.Ile3851del
XM_017009972.1:c.4671_4673del	XP_016865461.1:p.Ile1557del
XM_017009973.1:c.4650_4652del	XP_016865462.1:p.Ile1550del
NR_003149.2:n.11548_11550del