Canonical Allele Identifier: CA560900361

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1332108161
• gnomAD v2: 5-90008104-A-ATTTTTTT
• MyVariant Identifiers: chr5:g.90008104_90008105insTTTTTTT (hg19) ; chr5:g.90712287_90712288insTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712289_90712290insTTTTTTT , CM000667.2:g.90712289_90712290insTTTTTTT	GRCh38
NC_000005.9:g.90008106_90008107insTTTTTTT , CM000667.1:g.90008106_90008107insTTTTTTT	GRCh37
NC_000005.8:g.90043862_90043863insTTTTTTT	NCBI36
NG_007083.1:g.158490_158491insTTTTTTT
NG_007083.2:g.187946_187947insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9045_9046insTTTTTTT MANE Select	ENSP00000384582.2:p.Leu3016PhefsTer7
ENST00000639431.1:c.265+36080_265+36081insTTTTTTT	ENSP00000491057.1:n.265+36080_265+36081insTTTTTTT
ENST00000639473.1:n.4504_4505insTTTTTTT
ENST00000640012.1:c.2852_2853insTTTTTTT
ENST00000640374.1:n.2189_2190insTTTTTTT
ENST00000640779.1:c.3774_3775insTTTTTTT
ENST00000405460.6:c.9045_9046insTTTTTTT	ENSP00000384582.2:p.Leu3016PhefsTer7
ENST00000509621.1:c.1742_1743insTTTTTTT
NM_032119.3:c.9045_9046insTTTTTTT	NP_115495.3:p.Leu3016PhefsTer7
NR_003149.1:n.9058_9059insTTTTTTT
XM_011543675.1:c.9042_9043insTTTTTTT	XP_011541977.1:p.Leu3015PhefsTer7
XM_011543676.1:c.8964_8965insTTTTTTT	XP_011541978.1:p.Leu2989PhefsTer7
XM_011543677.1:c.6348_6349insTTTTTTT	XP_011541979.1:p.Leu2117PhefsTer7
XM_011543678.1:c.9045_9046insTTTTTTT	XP_011541980.1:p.Leu3016PhefsTer7
XM_011543679.1:c.9045_9046insTTTTTTT	XP_011541981.1:p.Leu3016PhefsTer7
NM_032119.4:c.9045_9046insTTTTTTT MANE Select	NP_115495.3:p.Leu3016PhefsTer7
XM_017009963.2:c.9066_9067insTTTTTTT	XP_016865452.1:p.Leu3023PhefsTer7
XM_017009964.2:c.9063_9064insTTTTTTT	XP_016865453.1:p.Leu3022PhefsTer7
XM_017009965.1:c.9063_9064insTTTTTTT	XP_016865454.1:p.Leu3022PhefsTer7
XM_017009966.2:c.8985_8986insTTTTTTT	XP_016865455.1:p.Leu2996PhefsTer7
XM_017009967.1:c.8970_8971insTTTTTTT	XP_016865456.1:p.Leu2991PhefsTer7
XM_017009968.2:c.9066_9067insTTTTTTT	XP_016865457.1:p.Leu3023PhefsTer7
XM_017009969.2:c.9066_9067insTTTTTTT	XP_016865458.1:p.Leu3023PhefsTer7
XM_017009970.2:c.9066_9067insTTTTTTT	XP_016865459.1:p.Leu3023PhefsTer7
XM_017009971.2:c.9066_9067insTTTTTTT	XP_016865460.1:p.Leu3023PhefsTer7
XM_017009972.1:c.2184_2185insTTTTTTT	XP_016865461.1:p.Leu729PhefsTer7
XM_017009973.1:c.2163_2164insTTTTTTT	XP_016865462.1:p.Leu722PhefsTer7
XM_017009974.2:c.9066_9067insTTTTTTT	XP_016865463.1:p.Leu3023PhefsTer7
NR_003149.2:n.9061_9062insTTTTTTT