Canonical Allele Identifier: CA615895504

Gene: VRK1

Linked Data

• ClinVar Variation Id: 2164156
• ClinVar RCV Id: RCV003073533
• dbSNP Id: rs1566721633
• gnomAD v2: 14-97342370-CGAAA-C
• gnomAD v4: 14-96876033-CGAAA-C
• MyVariant Identifiers: chr14:g.97342371_97342374del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96876042_96876045del , CM000676.2:g.96876042_96876045del	GRCh38
NC_000014.8:g.97342379_97342382del , CM000676.1:g.97342379_97342382del	GRCh37
NC_000014.7:g.96412132_96412135del	NCBI36
NG_016293.1:g.83696_83699del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216639.8:c.1081_1084del MANE Select	ENSP00000216639.3:p.Glu361LeufsTer?
ENST00000553683.2:c.1081_1084del	ENSP00000451412.2:p.Glu361LeufsTer?
ENST00000555067.2:n.11135_11138del
ENST00000679365.1:c.1072_1075del	ENSP00000505882.1:p.Glu358LeufsTer?
ENST00000679462.1:c.1116_1119del	ENSP00000506011.1:p.Lys372AsnfsTer2
ENST00000679506.1:n.3140_3143del
ENST00000679533.1:c.*854_*857del	ENSP00000505873.1:n.*854_*857del
ENST00000679650.1:c.*770_*773del	ENSP00000505156.1:n.*770_*773del
ENST00000679727.1:c.1075_1078del	ENSP00000505844.1:p.Glu359LeufsTer?
ENST00000679758.1:c.1068+15307_1068+15310del	ENSP00000505539.1:n.1068+15307_1068+15310del
ENST00000679770.1:c.1081_1084del	ENSP00000505214.1:p.Glu361LeufsTer26
ENST00000679816.1:c.1081_1084del	ENSP00000506525.1:p.Glu361LeufsTer?
ENST00000679843.1:c.384_387del	ENSP00000506467.1:n.384_387del
ENST00000679903.1:c.1072_1075del
ENST00000679918.1:c.1081_1084del	ENSP00000505439.1:p.Glu361LeufsTer?
ENST00000679941.1:c.1068+15307_1068+15310del	ENSP00000506520.1:n.1068+15307_1068+15310del
ENST00000679977.1:c.*327_*330del	ENSP00000504897.1:n.*327_*330del
ENST00000680007.1:c.1081_1084del	ENSP00000505683.1:p.Glu361LeufsTer?
ENST00000680335.1:c.1068+15307_1068+15310del	ENSP00000505806.1:n.1068+15307_1068+15310del
ENST00000680387.1:c.1078_1081del	ENSP00000504908.1:p.Glu360LeufsTer?
ENST00000680526.1:c.*587+15378_*587+15381del	ENSP00000505595.1:n.*587+15378_*587+15381del
ENST00000680538.1:c.991_994del	ENSP00000505611.1:p.Glu331LeufsTer?
ENST00000680683.1:c.1081_1084del	ENSP00000506334.1:p.Glu361LeufsTer28
ENST00000680724.1:c.1081_1084del	ENSP00000504891.1:p.Glu361LeufsTer?
ENST00000680756.1:c.1081_1084del	ENSP00000506648.1:p.Glu361LeufsTer?
ENST00000680849.1:c.1078_1081del	ENSP00000505602.1:p.Glu360LeufsTer?
ENST00000680851.1:c.1069-5135_1069-5132del	ENSP00000505159.1:n.1069-5135_1069-5132del
ENST00000680922.1:c.*212+15307_*212+15310del	ENSP00000506480.1:n.*212+15307_*212+15310del
ENST00000680993.1:c.*432+15307_*432+15310del	ENSP00000505511.1:n.*432+15307_*432+15310del
ENST00000681061.1:c.692+15307_692+15310del
ENST00000681101.1:c.1081_1084del	ENSP00000506564.1:p.Glu361LeufsTer?
ENST00000681195.1:c.1078_1081del	ENSP00000504933.1:p.Glu360LeufsTer?
ENST00000681249.1:c.1078_1081del	ENSP00000506013.1:p.Glu360LeufsTer?
ENST00000681344.1:c.1081_1084del	ENSP00000506151.1:p.Glu361LeufsTer?
ENST00000681355.1:c.1081_1084del	ENSP00000506214.1:p.Glu361LeufsTer?
ENST00000681363.1:c.*181_*184del	ENSP00000505564.1:n.*181_*184del
ENST00000681419.1:c.1081_1084del	ENSP00000505512.1:p.Glu361LeufsTer28
ENST00000681474.1:c.902_905del	ENSP00000505569.1:p.Arg301IlefsTer?
ENST00000681493.1:c.1075_1078del	ENSP00000506429.1:p.Glu359LeufsTer?
ENST00000681524.1:c.*225_*228del	ENSP00000505783.1:n.*225_*228del
ENST00000681538.1:c.*250_*253del	ENSP00000506662.1:n.*250_*253del
ENST00000681598.1:c.*537+15307_*537+15310del	ENSP00000506128.1:n.*537+15307_*537+15310del
ENST00000681677.1:c.705_708del
ENST00000681695.1:c.*671_*674del	ENSP00000506225.1:n.*671_*674del
ENST00000681778.1:c.1068+15307_1068+15310del	ENSP00000506049.1:n.1068+15307_1068+15310del
ENST00000216639.7:c.1081_1084del	ENSP00000216639.3:p.Glu361LeufsTer?
ENST00000553683.1:c.14_17del
ENST00000555067.1:n.311_314del
ENST00000557222.5:c.637+15307_637+15310del
NM_003384.2:c.1081_1084del	NP_003375.1:p.Glu361LeufsTer?
XM_006720247.2:c.1081_1084del	XP_006720310.1:p.Glu361LeufsTer?
XM_011537132.1:c.1078_1081del	XP_011535434.1:p.Glu360LeufsTer?
XM_006720247.4:c.1081_1084del	XP_006720310.1:p.Glu361LeufsTer?
XM_017021624.2:c.1078_1081del	XP_016877113.1:p.Glu360LeufsTer?
XM_017021625.1:c.1087_1090del	XP_016877114.1:p.Glu363LeufsTer?
XR_001750539.2:n.1028_1031del
NM_003384.3:c.1081_1084del MANE Select	NP_003375.1:p.Glu361LeufsTer?