Canonical Allele Identifier: CA2674570966

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755127-C-CAATAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755134_90755139dup , CM000667.2:g.90755134_90755139dup	GRCh38
NC_000005.9:g.90050951_90050956dup , CM000667.1:g.90050951_90050956dup	GRCh37
NC_000005.8:g.90086707_90086712dup	NCBI36
NG_007083.1:g.201335_201340dup
NG_007083.2:g.230791_230796dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11529_11534dup MANE Select	ENSP00000384582.2:p.Ile3844_Met3845insIleIle
ENST00000425867.3:c.660_665dup	ENSP00000392618.3:p.Ile221_Met222insIleIle
ENST00000639431.1:c.265+78925_265+78930dup	ENSP00000491057.1:n.265+78925_265+78930dup
ENST00000640374.1:n.4673_4678dup
ENST00000640464.1:n.1948_1953dup
ENST00000405460.6:c.11529_11534dup	ENSP00000384582.2:p.Ile3844_Met3845insIleIle
ENST00000509621.1:c.4226_4231dup
NM_032119.3:c.11529_11534dup	NP_115495.3:p.Ile3844_Met3845insIleIle
NR_003149.1:n.11542_11547dup
XM_011543675.1:c.11526_11531dup	XP_011541977.1:p.Ile3843_Met3844insIleIle
XM_011543676.1:c.11448_11453dup	XP_011541978.1:p.Ile3817_Met3818insIleIle
XM_011543677.1:c.8832_8837dup	XP_011541979.1:p.Ile2945_Met2946insIleIle
XM_011543678.1:c.11529_11534dup	XP_011541980.1:p.Ile3844_Met3845insIleIle
NM_032119.4:c.11529_11534dup MANE Select	NP_115495.3:p.Ile3844_Met3845insIleIle
XM_017009963.2:c.11550_11555dup	XP_016865452.1:p.Ile3851_Met3852insIleIle
XM_017009964.2:c.11547_11552dup	XP_016865453.1:p.Ile3850_Met3851insIleIle
XM_017009965.1:c.11547_11552dup	XP_016865454.1:p.Ile3850_Met3851insIleIle
XM_017009966.2:c.11469_11474dup	XP_016865455.1:p.Ile3824_Met3825insIleIle
XM_017009967.1:c.11454_11459dup	XP_016865456.1:p.Ile3819_Met3820insIleIle
XM_017009968.2:c.11550_11555dup	XP_016865457.1:p.Ile3851_Met3852insIleIle
XM_017009969.2:c.11550_11555dup	XP_016865458.1:p.Ile3851_Met3852insIleIle
XM_017009970.2:c.11550_11555dup	XP_016865459.1:p.Ile3851_Met3852insIleIle
XM_017009971.2:c.11550_11555dup	XP_016865460.1:p.Ile3851_Met3852insIleIle
XM_017009972.1:c.4668_4673dup	XP_016865461.1:p.Ile1557_Met1558insIleIle
XM_017009973.1:c.4647_4652dup	XP_016865462.1:p.Ile1550_Met1551insIleIle
NR_003149.2:n.11545_11550dup