Canonical Allele Identifier: CA560899280

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1326374112
• gnomAD v2: 5-89999506-TAAG-T
• gnomAD v3: 5-90703689-TAAG-T
• gnomAD v4: 5-90703689-TAAG-T
• MyVariant Identifiers: chr5:g.89999507_89999509del (hg19) ; chr5:g.90703690_90703692del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90703692_90703694del , CM000667.2:g.90703692_90703694del	GRCh38
NC_000005.9:g.89999509_89999511del , CM000667.1:g.89999509_89999511del	GRCh37
NC_000005.8:g.90035265_90035267del	NCBI36
NG_007083.1:g.149893_149895del
NG_007083.2:g.179349_179351del

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.8183_8185del MANE Select	ENSP00000384582.2:p.Arg2728del
ENST00000639431.1:c.265+27483_265+27485del	ENSP00000491057.1:n.265+27483_265+27485del
ENST00000639473.1:n.3642_3644del
ENST00000640012.1:c.1990_1992del
ENST00000640374.1:n.1327_1329del
ENST00000640403.1:c.5474_5476del	ENSP00000492531.1:p.Arg1825del
ENST00000640779.1:c.2912_2914del
ENST00000405460.6:c.8183_8185del	ENSP00000384582.2:p.Arg2728del
ENST00000509621.1:c.880_882del
NM_032119.3:c.8183_8185del	NP_115495.3:p.Arg2728del
NR_003149.1:n.8196_8198del
XM_011543675.1:c.8180_8182del	XP_011541977.1:p.Arg2727del
XM_011543676.1:c.8102_8104del	XP_011541978.1:p.Arg2701del
XM_011543677.1:c.5486_5488del	XP_011541979.1:p.Arg1829del
XM_011543678.1:c.8183_8185del	XP_011541980.1:p.Arg2728del
XM_011543679.1:c.8183_8185del	XP_011541981.1:p.Arg2728del
NM_032119.4:c.8183_8185del MANE Select	NP_115495.3:p.Arg2728del
XM_017009963.2:c.8183_8185del	XP_016865452.1:p.Arg2728del
XM_017009964.2:c.8180_8182del	XP_016865453.1:p.Arg2727del
XM_017009965.1:c.8180_8182del	XP_016865454.1:p.Arg2727del
XM_017009966.2:c.8102_8104del	XP_016865455.1:p.Arg2701del
XM_017009967.1:c.8087_8089del	XP_016865456.1:p.Arg2696del
XM_017009968.2:c.8183_8185del	XP_016865457.1:p.Arg2728del
XM_017009969.2:c.8183_8185del	XP_016865458.1:p.Arg2728del
XM_017009970.2:c.8183_8185del	XP_016865459.1:p.Arg2728del
XM_017009971.2:c.8183_8185del	XP_016865460.1:p.Arg2728del
XM_017009972.1:c.1301_1303del	XP_016865461.1:p.Arg434del
XM_017009973.1:c.1301_1303del	XP_016865462.1:p.Arg434del
XM_017009974.2:c.8183_8185del	XP_016865463.1:p.Arg2728del
NR_003149.2:n.8199_8201del