Canonical Allele Identifier: CA2674574512

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763411-T-TGAGAGTAGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763411_90763412insGAGAGTAGATG , CM000667.2:g.90763411_90763412insGAGAGTAGATG	GRCh38
NC_000005.9:g.90059228_90059229insGAGAGTAGATG , CM000667.1:g.90059228_90059229insGAGAGTAGATG	GRCh37
NC_000005.8:g.90094984_90094985insGAGAGTAGATG	NCBI36
NG_007083.1:g.209612_209613insGAGAGTAGATG
NG_007083.2:g.239068_239069insGAGAGTAGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12227_12228insGAGAGTAGATG MANE Select	ENSP00000384582.2:p.Ile4076MetfsTer16
ENST00000425867.3:c.1181_1182insGAGAGTAGATG	ENSP00000392618.3:p.Ile394MetfsTer16
ENST00000639431.1:c.265+87202_265+87203insGAGAGTAGATG	ENSP00000491057.1:n.265+87202_265+87203insGAGAGTAGATG
ENST00000640464.1:n.2646_2647insGAGAGTAGATG
ENST00000640729.1:n.804_805insGAGAGTAGATG
ENST00000405460.6:c.12227_12228insGAGAGTAGATG	ENSP00000384582.2:p.Ile4076MetfsTer16
NM_032119.3:c.12227_12228insGAGAGTAGATG	NP_115495.3:p.Ile4076MetfsTer16
NR_003149.1:n.12240_12241insGAGAGTAGATG
XM_011543675.1:c.12224_12225insGAGAGTAGATG	XP_011541977.1:p.Ile4075MetfsTer16
XM_011543676.1:c.12146_12147insGAGAGTAGATG	XP_011541978.1:p.Ile4049MetfsTer16
XM_011543677.1:c.9530_9531insGAGAGTAGATG	XP_011541979.1:p.Ile3177MetfsTer16
XM_011543678.1:c.12227_12228insGAGAGTAGATG	XP_011541980.1:p.Ile4076MetfsTer16
NM_032119.4:c.12227_12228insGAGAGTAGATG MANE Select	NP_115495.3:p.Ile4076MetfsTer16
XM_017009963.2:c.12248_12249insGAGAGTAGATG	XP_016865452.1:p.Ile4083MetfsTer16
XM_017009964.2:c.12245_12246insGAGAGTAGATG	XP_016865453.1:p.Ile4082MetfsTer16
XM_017009965.1:c.12245_12246insGAGAGTAGATG	XP_016865454.1:p.Ile4082MetfsTer16
XM_017009966.2:c.12167_12168insGAGAGTAGATG	XP_016865455.1:p.Ile4056MetfsTer16
XM_017009967.1:c.12152_12153insGAGAGTAGATG	XP_016865456.1:p.Ile4051MetfsTer16
XM_017009968.2:c.12248_12249insGAGAGTAGATG	XP_016865457.1:p.Ile4083MetfsTer16
XM_017009969.2:c.12248_12249insGAGAGTAGATG	XP_016865458.1:p.Ile4083MetfsTer16
XM_017009970.2:c.12248_12249insGAGAGTAGATG	XP_016865459.1:p.Ile4083MetfsTer16
XM_017009971.2:c.12248_12249insGAGAGTAGATG	XP_016865460.1:p.Ile4083MetfsTer16
XM_017009972.1:c.5366_5367insGAGAGTAGATG	XP_016865461.1:p.Ile1789MetfsTer16
XM_017009973.1:c.5345_5346insGAGAGTAGATG	XP_016865462.1:p.Ile1782MetfsTer16
NR_003149.2:n.12243_12244insGAGAGTAGATG