Canonical Allele Identifier: CA2674577100
Gene: ADGRV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823489_90823491del , CM000667.2:g.90823489_90823491del GRCh38
NC_000005.9:g.90119306_90119308del , CM000667.1:g.90119306_90119308del GRCh37
NC_000005.8:g.90155062_90155064del NCBI36
NG_007083.1:g.269690_269692del
NG_007083.2:g.299146_299148del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.16261_16263del MANE Select ENSP00000384582.2:p.Lys5421del
ENST00000425867.3:c.5215_5217del ENSP00000392618.3:p.Lys1739del
ENST00000638510.1:n.3528_3530del
ENST00000639431.1:c.265+147280_265+147282del ENSP00000491057.1:n.265+147280_265+147282del
ENST00000640061.1:n.128+1307_128+1309del
ENST00000640407.1:c.2671_2673del ENSP00000491425.1:p.Lys891del
ENST00000405460.6:c.16261_16263del ENSP00000384582.2:p.Lys5421del
ENST00000425867.2:c.3244_3246del ENSP00000392618.2:p.Lys1082del
NM_032119.3:c.16261_16263del NP_115495.3:p.Lys5421del
NR_003149.1:n.16274_16276del
XM_011543675.1:c.16258_16260del XP_011541977.1:p.Lys5420del
XM_011543676.1:c.16180_16182del XP_011541978.1:p.Lys5394del
XM_011543677.1:c.13564_13566del XP_011541979.1:p.Lys4522del
NM_032119.4:c.16261_16263del MANE Select NP_115495.3:p.Lys5421del
XM_017009963.2:c.16282_16284del XP_016865452.1:p.Lys5428del
XM_017009964.2:c.16279_16281del XP_016865453.1:p.Lys5427del
XM_017009965.1:c.16279_16281del XP_016865454.1:p.Lys5427del
XM_017009966.2:c.16201_16203del XP_016865455.1:p.Lys5401del
XM_017009967.1:c.16186_16188del XP_016865456.1:p.Lys5396del
XM_017009968.2:c.16102_16104del XP_016865457.1:p.Lys5368del
XM_017009969.2:c.16282_16284del XP_016865458.1:p.Lys5428del
XM_017009972.1:c.9400_9402del XP_016865461.1:p.Lys3134del
XM_017009973.1:c.9379_9381del XP_016865462.1:p.Lys3127del
NR_003149.2:n.16277_16279del