Canonical Allele Identifier: CA1562859304
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1746645831

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90692725_90692726del , CM000667.2:g.90692725_90692726del GRCh38
NC_000005.9:g.89988542_89988543del , CM000667.1:g.89988542_89988543del GRCh37
NC_000005.8:g.90024298_90024299del NCBI36
NG_007083.1:g.138926_138927del
NG_007083.2:g.168382_168383del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.7072_7073del MANE Select ENSP00000384582.2:p.Val2358LeufsTer14
ENST00000639431.1:c.265+16516_265+16517del ENSP00000491057.1:n.265+16516_265+16517del
ENST00000639473.1:n.2531_2532del
ENST00000640012.1:c.879_880del
ENST00000640374.1:n.216_217del
ENST00000640403.1:c.4363_4364del ENSP00000492531.1:p.Val1455LeufsTer14
ENST00000640779.1:c.1801_1802del
ENST00000405460.6:c.7072_7073del ENSP00000384582.2:p.Val2358LeufsTer14
NM_032119.3:c.7072_7073del NP_115495.3:p.Val2358LeufsTer14
NR_003149.1:n.7085_7086del
XM_011543675.1:c.7069_7070del XP_011541977.1:p.Val2357LeufsTer14
XM_011543676.1:c.6991_6992del XP_011541978.1:p.Val2331LeufsTer14
XM_011543677.1:c.4375_4376del XP_011541979.1:p.Val1459LeufsTer14
XM_011543678.1:c.7072_7073del XP_011541980.1:p.Val2358LeufsTer14
XM_011543679.1:c.7072_7073del XP_011541981.1:p.Val2358LeufsTer14
NM_032119.4:c.7072_7073del MANE Select NP_115495.3:p.Val2358LeufsTer14
XM_017009963.2:c.7072_7073del XP_016865452.1:p.Val2358LeufsTer14
XM_017009964.2:c.7069_7070del XP_016865453.1:p.Val2357LeufsTer14
XM_017009965.1:c.7069_7070del XP_016865454.1:p.Val2357LeufsTer14
XM_017009966.2:c.6991_6992del XP_016865455.1:p.Val2331LeufsTer14
XM_017009967.1:c.6976_6977del XP_016865456.1:p.Val2326LeufsTer14
XM_017009968.2:c.7072_7073del XP_016865457.1:p.Val2358LeufsTer14
XM_017009969.2:c.7072_7073del XP_016865458.1:p.Val2358LeufsTer14
XM_017009970.2:c.7072_7073del XP_016865459.1:p.Val2358LeufsTer14
XM_017009971.2:c.7072_7073del XP_016865460.1:p.Val2358LeufsTer14
XM_017009972.1:c.190_191del XP_016865461.1:p.Val64LeufsTer14
XM_017009973.1:c.190_191del XP_016865462.1:p.Val64LeufsTer14
XM_017009974.2:c.7072_7073del XP_016865463.1:p.Val2358LeufsTer14
NR_003149.2:n.7088_7089del