Canonical Allele Identifier: CA560898692

Gene: ADGRV1

Linked Data

• gnomAD v2: 5-89913741-GA-G
• MyVariant Identifiers: chr5:g.89913742del (hg19) ; chr5:g.90617925del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617927del , CM000667.2:g.90617927del	GRCh38
NC_000005.9:g.89913744del , CM000667.1:g.89913744del	GRCh37
NC_000005.8:g.89949500del	NCBI36
NG_007083.1:g.64128del
NG_007083.2:g.93584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.331del MANE Select	ENSP00000384582.2:p.Thr111LeufsTer6
ENST00000638316.1:n.541del
ENST00000638638.1:n.738del
ENST00000640083.1:n.36del
ENST00000640109.1:n.427del
ENST00000640281.1:n.390del
ENST00000405460.6:c.331del	ENSP00000384582.2:p.Thr111LeufsTer6
ENST00000508842.5:c.343del	ENSP00000425936.1:p.Thr115LeufsTer6
NM_032119.3:c.331del	NP_115495.3:p.Thr111LeufsTer6
NR_003149.1:n.427del
XM_011543675.1:c.331del	XP_011541977.1:p.Thr111LeufsTer6
XM_011543676.1:c.331del	XP_011541978.1:p.Thr111LeufsTer6
XM_011543678.1:c.331del	XP_011541980.1:p.Thr111LeufsTer6
XM_011543679.1:c.331del	XP_011541981.1:p.Thr111LeufsTer6
NM_032119.4:c.331del MANE Select	NP_115495.3:p.Thr111LeufsTer6
XM_017009963.2:c.331del	XP_016865452.1:p.Thr111LeufsTer6
XM_017009964.2:c.331del	XP_016865453.1:p.Thr111LeufsTer6
XM_017009965.1:c.328del	XP_016865454.1:p.Thr110LeufsTer6
XM_017009966.2:c.331del	XP_016865455.1:p.Thr111LeufsTer6
XM_017009967.1:c.331del	XP_016865456.1:p.Thr111LeufsTer6
XM_017009968.2:c.331del	XP_016865457.1:p.Thr111LeufsTer6
XM_017009969.2:c.331del	XP_016865458.1:p.Thr111LeufsTer6
XM_017009970.2:c.331del	XP_016865459.1:p.Thr111LeufsTer6
XM_017009971.2:c.331del	XP_016865460.1:p.Thr111LeufsTer6
XM_017009974.2:c.331del	XP_016865463.1:p.Thr111LeufsTer6
NR_003149.2:n.430del