Canonical Allele Identifier: CA2674567855

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90692758-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692759_90692760del , CM000667.2:g.90692759_90692760del	GRCh38
NC_000005.9:g.89988576_89988577del , CM000667.1:g.89988576_89988577del	GRCh37
NC_000005.8:g.90024332_90024333del	NCBI36
NG_007083.1:g.138960_138961del
NG_007083.2:g.168416_168417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7106_7107del MANE Select	ENSP00000384582.2:p.Ser2369LeufsTer3
ENST00000639431.1:c.265+16550_265+16551del	ENSP00000491057.1:n.265+16550_265+16551del
ENST00000639473.1:n.2565_2566del
ENST00000640012.1:c.913_914del
ENST00000640374.1:n.250_251del
ENST00000640403.1:c.4397_4398del	ENSP00000492531.1:p.Ser1466LeufsTer3
ENST00000640779.1:c.1835_1836del
ENST00000405460.6:c.7106_7107del	ENSP00000384582.2:p.Ser2369LeufsTer3
NM_032119.3:c.7106_7107del	NP_115495.3:p.Ser2369LeufsTer3
NR_003149.1:n.7119_7120del
XM_011543675.1:c.7103_7104del	XP_011541977.1:p.Ser2368LeufsTer3
XM_011543676.1:c.7025_7026del	XP_011541978.1:p.Ser2342LeufsTer3
XM_011543677.1:c.4409_4410del	XP_011541979.1:p.Ser1470LeufsTer3
XM_011543678.1:c.7106_7107del	XP_011541980.1:p.Ser2369LeufsTer3
XM_011543679.1:c.7106_7107del	XP_011541981.1:p.Ser2369LeufsTer3
NM_032119.4:c.7106_7107del MANE Select	NP_115495.3:p.Ser2369LeufsTer3
XM_017009963.2:c.7106_7107del	XP_016865452.1:p.Ser2369LeufsTer3
XM_017009964.2:c.7103_7104del	XP_016865453.1:p.Ser2368LeufsTer3
XM_017009965.1:c.7103_7104del	XP_016865454.1:p.Ser2368LeufsTer3
XM_017009966.2:c.7025_7026del	XP_016865455.1:p.Ser2342LeufsTer3
XM_017009967.1:c.7010_7011del	XP_016865456.1:p.Ser2337LeufsTer3
XM_017009968.2:c.7106_7107del	XP_016865457.1:p.Ser2369LeufsTer3
XM_017009969.2:c.7106_7107del	XP_016865458.1:p.Ser2369LeufsTer3
XM_017009970.2:c.7106_7107del	XP_016865459.1:p.Ser2369LeufsTer3
XM_017009971.2:c.7106_7107del	XP_016865460.1:p.Ser2369LeufsTer3
XM_017009972.1:c.224_225del	XP_016865461.1:p.Ser75LeufsTer3
XM_017009973.1:c.224_225del	XP_016865462.1:p.Ser75LeufsTer3
XM_017009974.2:c.7106_7107del	XP_016865463.1:p.Ser2369LeufsTer3
NR_003149.2:n.7122_7123del