Canonical Allele Identifier: CA3338585
Gene: ADGRV1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372373
ClinVar RCV Id: RCV000414704

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90627494dup , CM000667.2:g.90627494dup GRCh38
NC_000005.9:g.89923311dup , CM000667.1:g.89923311dup GRCh37
NC_000005.8:g.89959067dup NCBI36
NG_007083.1:g.73695dup
NG_007083.2:g.103151dup

Transcript Alleles

HGVS Amino-acid change
NM_032119.3:c.956dup VV NP_115495.3:p.Asn319LysfsTer6
NR_003149.1:n.1052dup
XM_011543675.1:c.956dup XP_011541977.1:p.Asn319LysfsTer6
XM_011543676.1:c.956dup XP_011541978.1:p.Asn319LysfsTer6
XM_011543678.1:c.956dup XP_011541980.1:p.Asn319LysfsTer6
XM_011543679.1:c.956dup XP_011541981.1:p.Asn319LysfsTer6
NM_032119.4:c.956dup VV MANE Preferred NP_115495.3:p.Asn319LysfsTer6
XM_017009963.2:c.956dup XP_016865452.1:p.Asn319LysfsTer6
XM_017009964.2:c.956dup XP_016865453.1:p.Asn319LysfsTer6
XM_017009965.1:c.953dup XP_016865454.1:p.Asn318LysfsTer6
XM_017009966.2:c.956dup XP_016865455.1:p.Asn319LysfsTer6
XM_017009967.1:c.860dup XP_016865456.1:p.Asn287LysfsTer6
XM_017009968.2:c.956dup XP_016865457.1:p.Asn319LysfsTer6
XM_017009969.2:c.956dup XP_016865458.1:p.Asn319LysfsTer6
XM_017009970.2:c.956dup XP_016865459.1:p.Asn319LysfsTer6
XM_017009971.2:c.956dup XP_016865460.1:p.Asn319LysfsTer6
XM_017009974.2:c.956dup XP_016865463.1:p.Asn319LysfsTer6
ENST00000405460.6:c.956dup ENSP00000384582.2:p.Asn319LysfsTer6