Canonical Allele Identifier: CA2499217983
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1074508
ClinVar RCV Id: RCV001387831
dbSNP Id: rs1220886340

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90627314dup , CM000667.2:g.90627314dup GRCh38
NC_000005.9:g.89923131dup , CM000667.1:g.89923131dup GRCh37
NC_000005.8:g.89958887dup NCBI36
NG_007083.1:g.73515dup
NG_007083.2:g.102971dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.776dup MANE Select ENSP00000384582.2:p.Asn259LysfsTer2
ENST00000640083.1:n.481dup
ENST00000640109.1:n.872dup
ENST00000640281.1:n.835dup
ENST00000405460.6:c.776dup ENSP00000384582.2:p.Asn259LysfsTer2
NM_032119.3:c.776dup NP_115495.3:p.Asn259LysfsTer2
NR_003149.1:n.872dup
XM_011543675.1:c.776dup XP_011541977.1:p.Asn259LysfsTer2
XM_011543676.1:c.776dup XP_011541978.1:p.Asn259LysfsTer2
XM_011543678.1:c.776dup XP_011541980.1:p.Asn259LysfsTer2
XM_011543679.1:c.776dup XP_011541981.1:p.Asn259LysfsTer2
NM_032119.4:c.776dup MANE Select NP_115495.3:p.Asn259LysfsTer2
XM_017009963.2:c.776dup XP_016865452.1:p.Asn259LysfsTer2
XM_017009964.2:c.776dup XP_016865453.1:p.Asn259LysfsTer2
XM_017009965.1:c.773dup XP_016865454.1:p.Asn258LysfsTer2
XM_017009966.2:c.776dup XP_016865455.1:p.Asn259LysfsTer2
XM_017009967.1:c.680dup XP_016865456.1:p.Asn227LysfsTer2
XM_017009968.2:c.776dup XP_016865457.1:p.Asn259LysfsTer2
XM_017009969.2:c.776dup XP_016865458.1:p.Asn259LysfsTer2
XM_017009970.2:c.776dup XP_016865459.1:p.Asn259LysfsTer2
XM_017009971.2:c.776dup XP_016865460.1:p.Asn259LysfsTer2
XM_017009974.2:c.776dup XP_016865463.1:p.Asn259LysfsTer2
NR_003149.2:n.875dup