Canonical Allele Identifier: CA2626419915

Gene: VRK1

Linked Data

• gnomAD v4: 14-96876100-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96876103_96876104del , CM000676.2:g.96876103_96876104del	GRCh38
NC_000014.8:g.97342440_97342441del , CM000676.1:g.97342440_97342441del	GRCh37
NC_000014.7:g.96412193_96412194del	NCBI36
NG_016293.1:g.83757_83758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216639.8:c.1142_1143del MANE Select	ENSP00000216639.3:p.Glu381GlyfsTer21
ENST00000553683.2:c.1142_1143del	ENSP00000451412.2:p.Glu381GlyfsTer8
ENST00000555067.2:n.11196_11197del
ENST00000679365.1:c.1133_1134del	ENSP00000505882.1:p.Glu378GlyfsTer10
ENST00000679462.1:c.1177_1178del	ENSP00000506011.1:p.Arg393GlufsTer16
ENST00000679506.1:n.3201_3202del
ENST00000679533.1:c.*915_*916del	ENSP00000505873.1:n.*915_*916del
ENST00000679650.1:c.*831_*832del	ENSP00000505156.1:n.*831_*832del
ENST00000679727.1:c.1136_1137del	ENSP00000505844.1:p.Glu379GlyfsTer21
ENST00000679758.1:c.1068+15368_1068+15369del	ENSP00000505539.1:n.1068+15368_1068+15369del
ENST00000679770.1:c.1142_1143del	ENSP00000505214.1:p.Glu381GlyfsTer?
ENST00000679816.1:c.1142_1143del	ENSP00000506525.1:p.Glu381GlyfsTer21
ENST00000679843.1:c.445_446del	ENSP00000506467.1:n.445_446del
ENST00000679903.1:c.1133_1134del	ENSP00000506022.1:p.Glu378GlyfsTer21
ENST00000679918.1:c.1142_1143del	ENSP00000505439.1:p.Glu381GlyfsTer8
ENST00000679941.1:c.1068+15368_1068+15369del	ENSP00000506520.1:n.1068+15368_1068+15369del
ENST00000679977.1:c.*388_*389del	ENSP00000504897.1:n.*388_*389del
ENST00000680007.1:c.1142_1143del	ENSP00000505683.1:p.Glu381GlyfsTer8
ENST00000680335.1:c.1068+15368_1068+15369del	ENSP00000505806.1:n.1068+15368_1068+15369del
ENST00000680387.1:c.1139_1140del	ENSP00000504908.1:p.Glu380GlyfsTer10
ENST00000680526.1:c.*587+15439_*587+15440del	ENSP00000505595.1:n.*587+15439_*587+15440del
ENST00000680538.1:c.1052_1053del	ENSP00000505611.1:p.Glu351GlyfsTer21
ENST00000680683.1:c.1142_1143del	ENSP00000506334.1:p.Glu381GlyfsTer28
ENST00000680724.1:c.1142_1143del	ENSP00000504891.1:p.Glu381GlyfsTer14
ENST00000680756.1:c.1142_1143del	ENSP00000506648.1:p.Glu381GlyfsTer21
ENST00000680849.1:c.1139_1140del	ENSP00000505602.1:p.Glu380GlyfsTer21
ENST00000680851.1:c.1069-5074_1069-5073del	ENSP00000505159.1:n.1069-5074_1069-5073del
ENST00000680922.1:c.*212+15368_*212+15369del	ENSP00000506480.1:n.*212+15368_*212+15369del
ENST00000680993.1:c.*432+15368_*432+15369del	ENSP00000505511.1:n.*432+15368_*432+15369del
ENST00000681061.1:c.692+15368_692+15369del
ENST00000681101.1:c.1142_1143del	ENSP00000506564.1:p.Glu381GlyfsTer10
ENST00000681195.1:c.1139_1140del	ENSP00000504933.1:p.Glu380GlyfsTer21
ENST00000681249.1:c.1139_1140del	ENSP00000506013.1:p.Glu380GlyfsTer21
ENST00000681344.1:c.1142_1143del	ENSP00000506151.1:p.Glu381GlyfsTer21
ENST00000681355.1:c.1142_1143del	ENSP00000506214.1:p.Glu381GlyfsTer21
ENST00000681363.1:c.*242_*243del	ENSP00000505564.1:n.*242_*243del
ENST00000681419.1:c.1142_1143del	ENSP00000505512.1:p.Glu381GlyfsTer7
ENST00000681474.1:c.*54_*55del	ENSP00000505569.1:n.*54_*55del
ENST00000681493.1:c.1136_1137del	ENSP00000506429.1:p.Glu379GlyfsTer21
ENST00000681524.1:c.*286_*287del	ENSP00000505783.1:n.*286_*287del
ENST00000681538.1:c.*311_*312del	ENSP00000506662.1:n.*311_*312del
ENST00000681598.1:c.*537+15368_*537+15369del	ENSP00000506128.1:n.*537+15368_*537+15369del
ENST00000681677.1:c.766_767del
ENST00000681695.1:c.*732_*733del	ENSP00000506225.1:n.*732_*733del
ENST00000681778.1:c.1068+15368_1068+15369del	ENSP00000506049.1:n.1068+15368_1068+15369del
ENST00000216639.7:c.1142_1143del	ENSP00000216639.3:p.Glu381GlyfsTer21
ENST00000553683.1:c.75_76del
ENST00000555067.1:n.372_373del
ENST00000557222.5:c.637+15368_637+15369del
NM_003384.2:c.1142_1143del	NP_003375.1:p.Glu381GlyfsTer21
XM_006720247.2:c.1142_1143del	XP_006720310.1:p.Glu381GlyfsTer8
XM_011537132.1:c.1139_1140del	XP_011535434.1:p.Glu380GlyfsTer8
XM_006720247.4:c.1142_1143del	XP_006720310.1:p.Glu381GlyfsTer8
XM_017021624.2:c.1139_1140del	XP_016877113.1:p.Glu380GlyfsTer21
XM_017021625.1:c.1148_1149del	XP_016877114.1:p.Glu383GlyfsTer21
XR_001750539.2:n.1089_1090del
NM_003384.3:c.1142_1143del MANE Select	NP_003375.1:p.Glu381GlyfsTer21