Canonical Allele Identifier: CA1562918440
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1763828197

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823808_90823815del , CM000667.2:g.90823808_90823815del GRCh38
NC_000005.9:g.90119625_90119632del , CM000667.1:g.90119625_90119632del GRCh37
NC_000005.8:g.90155381_90155388del NCBI36
NG_007083.1:g.270009_270016del
NG_007083.2:g.299465_299472del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.16368+212_16368+219del MANE Select ENSP00000384582.2:n.16368+212_16368+219del
ENST00000425867.3:c.5322+212_5322+219del ENSP00000392618.3:n.5322+212_5322+219del
ENST00000638510.1:n.3635+212_3635+219del
ENST00000639431.1:c.265+147599_265+147606del ENSP00000491057.1:n.265+147599_265+147606del
ENST00000640061.1:n.128+1626_128+1633del
ENST00000640407.1:c.2778+212_2778+219del ENSP00000491425.1:n.2778+212_2778+219del
ENST00000405460.6:c.16368+212_16368+219del ENSP00000384582.2:n.16368+212_16368+219del
ENST00000425867.2:c.3351+212_3351+219del ENSP00000392618.2:n.3351+212_3351+219del
NM_032119.3:c.16368+212_16368+219del NP_115495.3:n.16368+212_16368+219del
NR_003149.1:n.16381+212_16381+219del
XM_011543675.1:c.16365+212_16365+219del XP_011541977.1:n.16365+212_16365+219del
XM_011543676.1:c.16287+212_16287+219del XP_011541978.1:n.16287+212_16287+219del
XM_011543677.1:c.13671+212_13671+219del XP_011541979.1:n.13671+212_13671+219del
NM_032119.4:c.16368+212_16368+219del MANE Select NP_115495.3:n.16368+212_16368+219del
XM_017009963.2:c.16389+212_16389+219del XP_016865452.1:n.16389+212_16389+219del
XM_017009964.2:c.16386+212_16386+219del XP_016865453.1:n.16386+212_16386+219del
XM_017009965.1:c.16386+212_16386+219del XP_016865454.1:n.16386+212_16386+219del
XM_017009966.2:c.16308+212_16308+219del XP_016865455.1:n.16308+212_16308+219del
XM_017009967.1:c.16293+212_16293+219del XP_016865456.1:n.16293+212_16293+219del
XM_017009968.2:c.16209+212_16209+219del XP_016865457.1:n.16209+212_16209+219del
XM_017009969.2:c.16389+212_16389+219del XP_016865458.1:n.16389+212_16389+219del
XM_017009972.1:c.9507+212_9507+219del XP_016865461.1:n.9507+212_9507+219del
XM_017009973.1:c.9486+212_9486+219del XP_016865462.1:n.9486+212_9486+219del
NR_003149.2:n.16384+212_16384+219del