Canonical Allele Identifier: CA561259525

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1220886340
• gnomAD v2: 5-89923126-GA-G
• gnomAD v4: 5-90627309-GA-G
• MyVariant Identifiers: chr5:g.89923127del (hg19) ; chr5:g.90627310del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.776del MANE Select	ENSP00000384582.2:p.Asn259MetfsTer5
ENST00000640083.1:n.481del
ENST00000640109.1:n.872del
ENST00000640281.1:n.835del
ENST00000405460.6:c.776del	ENSP00000384582.2:p.Asn259MetfsTer5
NM_032119.3:c.776del	NP_115495.3:p.Asn259MetfsTer5
NR_003149.1:n.872del
XM_011543675.1:c.776del	XP_011541977.1:p.Asn259MetfsTer5
XM_011543676.1:c.776del	XP_011541978.1:p.Asn259MetfsTer5
XM_011543678.1:c.776del	XP_011541980.1:p.Asn259MetfsTer5
XM_011543679.1:c.776del	XP_011541981.1:p.Asn259MetfsTer5
NM_032119.4:c.776del MANE Select	NP_115495.3:p.Asn259MetfsTer5
XM_017009963.2:c.776del	XP_016865452.1:p.Asn259MetfsTer5
XM_017009964.2:c.776del	XP_016865453.1:p.Asn259MetfsTer5
XM_017009965.1:c.773del	XP_016865454.1:p.Asn258MetfsTer5
XM_017009966.2:c.776del	XP_016865455.1:p.Asn259MetfsTer5
XM_017009967.1:c.680del	XP_016865456.1:p.Asn227MetfsTer5
XM_017009968.2:c.776del	XP_016865457.1:p.Asn259MetfsTer5
XM_017009969.2:c.776del	XP_016865458.1:p.Asn259MetfsTer5
XM_017009970.2:c.776del	XP_016865459.1:p.Asn259MetfsTer5
XM_017009971.2:c.776del	XP_016865460.1:p.Asn259MetfsTer5
XM_017009974.2:c.776del	XP_016865463.1:p.Asn259MetfsTer5
NR_003149.2:n.875del