Canonical Allele Identifier: CA1078666518

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1754542391
• gnomAD v3: 5-90745670-AAAG-A
• gnomAD v4: 5-90745670-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745676_90745678del , CM000667.2:g.90745676_90745678del	GRCh38
NC_000005.9:g.90041493_90041495del , CM000667.1:g.90041493_90041495del	GRCh37
NC_000005.8:g.90077249_90077251del	NCBI36
NG_007083.1:g.191877_191879del
NG_007083.2:g.221333_221335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10855_10857del MANE Select	ENSP00000384582.2:p.Glu3619del
ENST00000639431.1:c.265+69467_265+69469del	ENSP00000491057.1:n.265+69467_265+69469del
ENST00000640374.1:n.3999_4001del
ENST00000640464.1:n.1274_1276del
ENST00000405460.6:c.10855_10857del	ENSP00000384582.2:p.Glu3619del
ENST00000509621.1:c.3552_3554del
NM_032119.3:c.10855_10857del	NP_115495.3:p.Glu3619del
NR_003149.1:n.10868_10870del
XM_011543675.1:c.10852_10854del	XP_011541977.1:p.Glu3618del
XM_011543676.1:c.10774_10776del	XP_011541978.1:p.Glu3592del
XM_011543677.1:c.8158_8160del	XP_011541979.1:p.Glu2720del
XM_011543678.1:c.10855_10857del	XP_011541980.1:p.Glu3619del
XM_011543679.1:c.*77_*79del	XP_011541981.1:n.*77_*79del
NM_032119.4:c.10855_10857del MANE Select	NP_115495.3:p.Glu3619del
XM_017009963.2:c.10876_10878del	XP_016865452.1:p.Glu3626del
XM_017009964.2:c.10873_10875del	XP_016865453.1:p.Glu3625del
XM_017009965.1:c.10873_10875del	XP_016865454.1:p.Glu3625del
XM_017009966.2:c.10795_10797del	XP_016865455.1:p.Glu3599del
XM_017009967.1:c.10780_10782del	XP_016865456.1:p.Glu3594del
XM_017009968.2:c.10876_10878del	XP_016865457.1:p.Glu3626del
XM_017009969.2:c.10876_10878del	XP_016865458.1:p.Glu3626del
XM_017009970.2:c.10876_10878del	XP_016865459.1:p.Glu3626del
XM_017009971.2:c.10876_10878del	XP_016865460.1:p.Glu3626del
XM_017009972.1:c.3994_3996del	XP_016865461.1:p.Glu1332del
XM_017009973.1:c.3973_3975del	XP_016865462.1:p.Glu1325del
XM_017009974.2:c.*77_*79del	XP_016865463.1:n.*77_*79del
NR_003149.2:n.10871_10873del