Canonical Allele Identifier: CA2674560125

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90617942-TTAACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617944_90617948del , CM000667.2:g.90617944_90617948del	GRCh38
NC_000005.9:g.89913761_89913765del , CM000667.1:g.89913761_89913765del	GRCh37
NC_000005.8:g.89949517_89949521del	NCBI36
NG_007083.1:g.64145_64149del
NG_007083.2:g.93601_93605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.348_352del MANE Select	ENSP00000384582.2:p.Leu116PhefsTer24
ENST00000638316.1:n.558_562del
ENST00000638638.1:n.755_759del
ENST00000640083.1:n.53_57del
ENST00000640109.1:n.444_448del
ENST00000640281.1:n.407_411del
ENST00000405460.6:c.348_352del	ENSP00000384582.2:p.Leu116PhefsTer24
ENST00000508842.5:c.360_364del	ENSP00000425936.1:p.Leu120PhefsTer10
NM_032119.3:c.348_352del	NP_115495.3:p.Leu116PhefsTer24
NR_003149.1:n.444_448del
XM_011543675.1:c.348_352del	XP_011541977.1:p.Leu116PhefsTer24
XM_011543676.1:c.348_352del	XP_011541978.1:p.Leu116PhefsTer24
XM_011543678.1:c.348_352del	XP_011541980.1:p.Leu116PhefsTer24
XM_011543679.1:c.348_352del	XP_011541981.1:p.Leu116PhefsTer24
NM_032119.4:c.348_352del MANE Select	NP_115495.3:p.Leu116PhefsTer24
XM_017009963.2:c.348_352del	XP_016865452.1:p.Leu116PhefsTer24
XM_017009964.2:c.348_352del	XP_016865453.1:p.Leu116PhefsTer24
XM_017009965.1:c.345_349del	XP_016865454.1:p.Leu115PhefsTer24
XM_017009966.2:c.348_352del	XP_016865455.1:p.Leu116PhefsTer24
XM_017009967.1:c.348_352del	XP_016865456.1:p.Leu116PhefsTer10
XM_017009968.2:c.348_352del	XP_016865457.1:p.Leu116PhefsTer24
XM_017009969.2:c.348_352del	XP_016865458.1:p.Leu116PhefsTer24
XM_017009970.2:c.348_352del	XP_016865459.1:p.Leu116PhefsTer24
XM_017009971.2:c.348_352del	XP_016865460.1:p.Leu116PhefsTer24
XM_017009974.2:c.348_352del	XP_016865463.1:p.Leu116PhefsTer24
NR_003149.2:n.447_451del