Canonical Allele Identifier: CA2674547020

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90716628-ACAGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716636_90716640del , CM000667.2:g.90716636_90716640del	GRCh38
NC_000005.9:g.90012453_90012457del , CM000667.1:g.90012453_90012457del	GRCh37
NC_000005.8:g.90048209_90048213del	NCBI36
NG_007083.1:g.162837_162841del
NG_007083.2:g.192293_192297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9354_9358del MANE Select	ENSP00000384582.2:p.Gln3118HisfsTer10
ENST00000639431.1:c.265+40427_265+40431del	ENSP00000491057.1:n.265+40427_265+40431del
ENST00000639473.1:n.4813_4817del
ENST00000640012.1:c.3161_3165del
ENST00000640374.1:n.2498_2502del
ENST00000640779.1:c.4083_4087del
ENST00000405460.6:c.9354_9358del	ENSP00000384582.2:p.Gln3118HisfsTer10
ENST00000509621.1:c.2051_2055del
NM_032119.3:c.9354_9358del	NP_115495.3:p.Gln3118HisfsTer10
NR_003149.1:n.9367_9371del
XM_011543675.1:c.9351_9355del	XP_011541977.1:p.Gln3117HisfsTer10
XM_011543676.1:c.9273_9277del	XP_011541978.1:p.Gln3091HisfsTer10
XM_011543677.1:c.6657_6661del	XP_011541979.1:p.Gln2219HisfsTer10
XM_011543678.1:c.9354_9358del	XP_011541980.1:p.Gln3118HisfsTer10
XM_011543679.1:c.9354_9358del	XP_011541981.1:p.Gln3118HisfsTer10
XR_948560.1:n.272-824_272-820del
NM_032119.4:c.9354_9358del MANE Select	NP_115495.3:p.Gln3118HisfsTer10
XM_017009963.2:c.9375_9379del	XP_016865452.1:p.Gln3125HisfsTer10
XM_017009964.2:c.9372_9376del	XP_016865453.1:p.Gln3124HisfsTer10
XM_017009965.1:c.9372_9376del	XP_016865454.1:p.Gln3124HisfsTer10
XM_017009966.2:c.9294_9298del	XP_016865455.1:p.Gln3098HisfsTer10
XM_017009967.1:c.9279_9283del	XP_016865456.1:p.Gln3093HisfsTer10
XM_017009968.2:c.9375_9379del	XP_016865457.1:p.Gln3125HisfsTer10
XM_017009969.2:c.9375_9379del	XP_016865458.1:p.Gln3125HisfsTer10
XM_017009970.2:c.9375_9379del	XP_016865459.1:p.Gln3125HisfsTer10
XM_017009971.2:c.9375_9379del	XP_016865460.1:p.Gln3125HisfsTer10
XM_017009972.1:c.2493_2497del	XP_016865461.1:p.Gln831HisfsTer10
XM_017009973.1:c.2472_2476del	XP_016865462.1:p.Gln824HisfsTer10
XM_017009974.2:c.9375_9379del	XP_016865463.1:p.Gln3125HisfsTer10
XR_001742802.1:n.2523-824_2523-820del
NR_003149.2:n.9370_9374del