Canonical Allele Identifier: CA917526326

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1580828441
• gnomAD v3: 5-90712392-CCTT-C
• gnomAD v4: 5-90712392-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712395_90712397del , CM000667.2:g.90712395_90712397del	GRCh38
NC_000005.9:g.90008212_90008214del , CM000667.1:g.90008212_90008214del	GRCh37
NC_000005.8:g.90043968_90043970del	NCBI36
NG_007083.1:g.158596_158598del
NG_007083.2:g.188052_188054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9151_9153del MANE Select	ENSP00000384582.2:p.Ser3051del
ENST00000639431.1:c.265+36186_265+36188del	ENSP00000491057.1:n.265+36186_265+36188del
ENST00000639473.1:n.4610_4612del
ENST00000640012.1:c.2958_2960del
ENST00000640374.1:n.2295_2297del
ENST00000640779.1:c.3880_3882del
ENST00000405460.6:c.9151_9153del	ENSP00000384582.2:p.Ser3051del
ENST00000509621.1:c.1848_1850del
NM_032119.3:c.9151_9153del	NP_115495.3:p.Ser3051del
NR_003149.1:n.9164_9166del
XM_011543675.1:c.9148_9150del	XP_011541977.1:p.Ser3050del
XM_011543676.1:c.9070_9072del	XP_011541978.1:p.Ser3024del
XM_011543677.1:c.6454_6456del	XP_011541979.1:p.Ser2152del
XM_011543678.1:c.9151_9153del	XP_011541980.1:p.Ser3051del
XM_011543679.1:c.9151_9153del	XP_011541981.1:p.Ser3051del
XR_948560.1:n.451_453del
NM_032119.4:c.9151_9153del MANE Select	NP_115495.3:p.Ser3051del
XM_017009963.2:c.9172_9174del	XP_016865452.1:p.Ser3058del
XM_017009964.2:c.9169_9171del	XP_016865453.1:p.Ser3057del
XM_017009965.1:c.9169_9171del	XP_016865454.1:p.Ser3057del
XM_017009966.2:c.9091_9093del	XP_016865455.1:p.Ser3031del
XM_017009967.1:c.9076_9078del	XP_016865456.1:p.Ser3026del
XM_017009968.2:c.9172_9174del	XP_016865457.1:p.Ser3058del
XM_017009969.2:c.9172_9174del	XP_016865458.1:p.Ser3058del
XM_017009970.2:c.9172_9174del	XP_016865459.1:p.Ser3058del
XM_017009971.2:c.9172_9174del	XP_016865460.1:p.Ser3058del
XM_017009972.1:c.2290_2292del	XP_016865461.1:p.Ser764del
XM_017009973.1:c.2269_2271del	XP_016865462.1:p.Ser757del
XM_017009974.2:c.9172_9174del	XP_016865463.1:p.Ser3058del
NR_003149.2:n.9167_9169del