Canonical Allele Identifier: CA2674577103

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90823523-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823527_90823528del , CM000667.2:g.90823527_90823528del	GRCh38
NC_000005.9:g.90119344_90119345del , CM000667.1:g.90119344_90119345del	GRCh37
NC_000005.8:g.90155100_90155101del	NCBI36
NG_007083.1:g.269728_269729del
NG_007083.2:g.299184_299185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16299_16300del MANE Select	ENSP00000384582.2:p.Ser5434ArgfsTer17
ENST00000425867.3:c.5253_5254del	ENSP00000392618.3:p.Ser1752ArgfsTer17
ENST00000638510.1:n.3566_3567del
ENST00000639431.1:c.265+147318_265+147319del	ENSP00000491057.1:n.265+147318_265+147319del
ENST00000640061.1:n.128+1345_128+1346del
ENST00000640407.1:c.2709_2710del	ENSP00000491425.1:p.Ser904ArgfsTer17
ENST00000405460.6:c.16299_16300del	ENSP00000384582.2:p.Ser5434ArgfsTer17
ENST00000425867.2:c.3282_3283del	ENSP00000392618.2:p.Ser1095ArgfsTer17
NM_032119.3:c.16299_16300del	NP_115495.3:p.Ser5434ArgfsTer17
NR_003149.1:n.16312_16313del
XM_011543675.1:c.16296_16297del	XP_011541977.1:p.Ser5433ArgfsTer17
XM_011543676.1:c.16218_16219del	XP_011541978.1:p.Ser5407ArgfsTer17
XM_011543677.1:c.13602_13603del	XP_011541979.1:p.Ser4535ArgfsTer17
NM_032119.4:c.16299_16300del MANE Select	NP_115495.3:p.Ser5434ArgfsTer17
XM_017009963.2:c.16320_16321del	XP_016865452.1:p.Ser5441ArgfsTer17
XM_017009964.2:c.16317_16318del	XP_016865453.1:p.Ser5440ArgfsTer17
XM_017009965.1:c.16317_16318del	XP_016865454.1:p.Ser5440ArgfsTer17
XM_017009966.2:c.16239_16240del	XP_016865455.1:p.Ser5414ArgfsTer17
XM_017009967.1:c.16224_16225del	XP_016865456.1:p.Ser5409ArgfsTer17
XM_017009968.2:c.16140_16141del	XP_016865457.1:p.Ser5381ArgfsTer17
XM_017009969.2:c.16320_16321del	XP_016865458.1:p.Ser5441ArgfsTer17
XM_017009972.1:c.9438_9439del	XP_016865461.1:p.Ser3147ArgfsTer17
XM_017009973.1:c.9417_9418del	XP_016865462.1:p.Ser3140ArgfsTer17
NR_003149.2:n.16315_16316del