Canonical Allele Identifier: CA2767419489

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755160_90755161insCTTTTAT , CM000667.2:g.90755160_90755161insCTTTTAT	GRCh38
NC_000005.9:g.90050977_90050978insCTTTTAT , CM000667.1:g.90050977_90050978insCTTTTAT	GRCh37
NC_000005.8:g.90086733_90086734insCTTTTAT	NCBI36
NG_007083.1:g.201361_201362insCTTTTAT
NG_007083.2:g.230817_230818insCTTTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11555_11556insCTTTTAT MANE Select	ENSP00000384582.2:p.His3853PhefsTer12
ENST00000425867.3:c.686_687insCTTTTAT	ENSP00000392618.3:p.His230PhefsTer20
ENST00000639431.1:c.265+78951_265+78952insCTTTTAT	ENSP00000491057.1:n.265+78951_265+78952insCTTTTAT
ENST00000640374.1:n.4699_4700insCTTTTAT
ENST00000640464.1:n.1974_1975insCTTTTAT
ENST00000405460.6:c.11555_11556insCTTTTAT	ENSP00000384582.2:p.His3853PhefsTer12
ENST00000509621.1:c.4252_4253insCTTTTAT
NM_032119.3:c.11555_11556insCTTTTAT	NP_115495.3:p.His3853PhefsTer12
NR_003149.1:n.11568_11569insCTTTTAT
XM_011543675.1:c.11552_11553insCTTTTAT	XP_011541977.1:p.His3852PhefsTer12
XM_011543676.1:c.11474_11475insCTTTTAT	XP_011541978.1:p.His3826PhefsTer12
XM_011543677.1:c.8858_8859insCTTTTAT	XP_011541979.1:p.His2954PhefsTer12
XM_011543678.1:c.11555_11556insCTTTTAT	XP_011541980.1:p.His3853PhefsTer12
NM_032119.4:c.11555_11556insCTTTTAT MANE Select	NP_115495.3:p.His3853PhefsTer12
XM_017009963.2:c.11576_11577insCTTTTAT	XP_016865452.1:p.His3860PhefsTer12
XM_017009964.2:c.11573_11574insCTTTTAT	XP_016865453.1:p.His3859PhefsTer12
XM_017009965.1:c.11573_11574insCTTTTAT	XP_016865454.1:p.His3859PhefsTer12
XM_017009966.2:c.11495_11496insCTTTTAT	XP_016865455.1:p.His3833PhefsTer12
XM_017009967.1:c.11480_11481insCTTTTAT	XP_016865456.1:p.His3828PhefsTer12
XM_017009968.2:c.11576_11577insCTTTTAT	XP_016865457.1:p.His3860PhefsTer12
XM_017009969.2:c.11576_11577insCTTTTAT	XP_016865458.1:p.His3860PhefsTer12
XM_017009970.2:c.11576_11577insCTTTTAT	XP_016865459.1:p.His3860PhefsTer12
XM_017009971.2:c.11576_11577insCTTTTAT	XP_016865460.1:p.His3860PhefsTer12
XM_017009972.1:c.4694_4695insCTTTTAT	XP_016865461.1:p.His1566PhefsTer12
XM_017009973.1:c.4673_4674insCTTTTAT	XP_016865462.1:p.His1559PhefsTer12
NR_003149.2:n.11571_11572insCTTTTAT