Canonical Allele Identifier: CA2767419679
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90755214_90755219del , CM000667.2:g.90755214_90755219del GRCh38
NC_000005.9:g.90051031_90051036del , CM000667.1:g.90051031_90051036del GRCh37
NC_000005.8:g.90086787_90086792del NCBI36
NG_007083.1:g.201415_201420del
NG_007083.2:g.230871_230876del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.11580+29_11580+34del MANE Select ENSP00000384582.2:n.11580+29_11580+34del
ENST00000425867.3:c.711+29_711+34del ENSP00000392618.3:n.711+29_711+34del
ENST00000639431.1:c.265+79005_265+79010del ENSP00000491057.1:n.265+79005_265+79010del
ENST00000640374.1:n.4724+29_4724+34del
ENST00000640464.1:n.1999+29_1999+34del
ENST00000405460.6:c.11580+29_11580+34del ENSP00000384582.2:n.11580+29_11580+34del
ENST00000509621.1:c.4277+29_4277+34del
NM_032119.3:c.11580+29_11580+34del NP_115495.3:n.11580+29_11580+34del
NR_003149.1:n.11593+29_11593+34del
XM_011543675.1:c.11577+29_11577+34del XP_011541977.1:n.11577+29_11577+34del
XM_011543676.1:c.11499+29_11499+34del XP_011541978.1:n.11499+29_11499+34del
XM_011543677.1:c.8883+29_8883+34del XP_011541979.1:n.8883+29_8883+34del
XM_011543678.1:c.11580+29_11580+34del XP_011541980.1:n.11580+29_11580+34del
NM_032119.4:c.11580+29_11580+34del MANE Select NP_115495.3:n.11580+29_11580+34del
XM_017009963.2:c.11601+29_11601+34del XP_016865452.1:n.11601+29_11601+34del
XM_017009964.2:c.11598+29_11598+34del XP_016865453.1:n.11598+29_11598+34del
XM_017009965.1:c.11598+29_11598+34del XP_016865454.1:n.11598+29_11598+34del
XM_017009966.2:c.11520+29_11520+34del XP_016865455.1:n.11520+29_11520+34del
XM_017009967.1:c.11505+29_11505+34del XP_016865456.1:n.11505+29_11505+34del
XM_017009968.2:c.11601+29_11601+34del XP_016865457.1:n.11601+29_11601+34del
XM_017009969.2:c.11601+29_11601+34del XP_016865458.1:n.11601+29_11601+34del
XM_017009970.2:c.11601+29_11601+34del XP_016865459.1:n.11601+29_11601+34del
XM_017009971.2:c.11601+29_11601+34del XP_016865460.1:n.11601+29_11601+34del
XM_017009972.1:c.4719+29_4719+34del XP_016865461.1:n.4719+29_4719+34del
XM_017009973.1:c.4698+29_4698+34del XP_016865462.1:n.4698+29_4698+34del
NR_003149.2:n.11596+29_11596+34del