Canonical Allele Identifier: CA2674561905

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90627367-C-CACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627370_90627373dup , CM000667.2:g.90627370_90627373dup	GRCh38
NC_000005.9:g.89923187_89923190dup , CM000667.1:g.89923187_89923190dup	GRCh37
NC_000005.8:g.89958943_89958946dup	NCBI36
NG_007083.1:g.73571_73574dup
NG_007083.2:g.103027_103030dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.832_835dup MANE Select	ENSP00000384582.2:p.Leu279HisfsTer20
ENST00000640083.1:n.537_540dup
ENST00000640109.1:n.928_931dup
ENST00000640281.1:n.891_894dup
ENST00000405460.6:c.832_835dup	ENSP00000384582.2:p.Leu279HisfsTer20
NM_032119.3:c.832_835dup	NP_115495.3:p.Leu279HisfsTer20
NR_003149.1:n.928_931dup
XM_011543675.1:c.832_835dup	XP_011541977.1:p.Leu279HisfsTer20
XM_011543676.1:c.832_835dup	XP_011541978.1:p.Leu279HisfsTer20
XM_011543678.1:c.832_835dup	XP_011541980.1:p.Leu279HisfsTer20
XM_011543679.1:c.832_835dup	XP_011541981.1:p.Leu279HisfsTer20
NM_032119.4:c.832_835dup MANE Select	NP_115495.3:p.Leu279HisfsTer20
XM_017009963.2:c.832_835dup	XP_016865452.1:p.Leu279HisfsTer20
XM_017009964.2:c.832_835dup	XP_016865453.1:p.Leu279HisfsTer20
XM_017009965.1:c.829_832dup	XP_016865454.1:p.Leu278HisfsTer20
XM_017009966.2:c.832_835dup	XP_016865455.1:p.Leu279HisfsTer20
XM_017009967.1:c.736_739dup	XP_016865456.1:p.Leu247HisfsTer20
XM_017009968.2:c.832_835dup	XP_016865457.1:p.Leu279HisfsTer20
XM_017009969.2:c.832_835dup	XP_016865458.1:p.Leu279HisfsTer20
XM_017009970.2:c.832_835dup	XP_016865459.1:p.Leu279HisfsTer20
XM_017009971.2:c.832_835dup	XP_016865460.1:p.Leu279HisfsTer20
XM_017009974.2:c.832_835dup	XP_016865463.1:p.Leu279HisfsTer20
NR_003149.2:n.931_934dup