Canonical Allele Identifier: CA658657407
Gene: NEK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 446670
ClinVar RCV Id: RCV000516096
dbSNP Id: rs1554053289

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169508311_169508312del , CM000666.2:g.169508311_169508312del GRCh38
NC_000004.11:g.170429462_170429463del , CM000666.1:g.170429462_170429463del GRCh37
NC_000004.10:g.170666037_170666038del NCBI36
NG_027982.1:g.109316_109317del

Transcript Alleles

HGVS Amino-acid Change
ENST00000685111.1:c.1601_1602del ENSP00000508844.1:p.Arg534ThrfsTer9
ENST00000685677.1:n.1067_1068del
ENST00000686697.1:c.1559_1560del ENSP00000508689.1:p.Arg520ThrfsTer9
ENST00000687054.1:n.2263_2264del
ENST00000687219.1:c.*1272_*1273del ENSP00000509736.1:n.*1272_*1273del
ENST00000687528.1:c.1637_1638del ENSP00000510228.1:p.Arg546ThrfsTer9
ENST00000687643.1:c.1712_1713del ENSP00000509309.1:p.Arg571ThrfsTer9
ENST00000688934.1:c.-113_-112del ENSP00000510760.1:n.-113_-112del
ENST00000689190.1:n.1655_1656del
ENST00000692450.1:c.*1434_*1435del ENSP00000510283.1:n.*1434_*1435del
ENST00000693085.1:c.*1512_*1513del ENSP00000508746.1:n.*1512_*1513del
ENST00000693604.1:c.*703_*704del ENSP00000509917.1:n.*703_*704del
ENST00000507142.6:c.1769_1770del MANE Select ENSP00000424757.2:p.Arg590ThrfsTer9
ENST00000439128.6:c.1685_1686del ENSP00000408020.2:p.Arg562ThrfsTer9
ENST00000507142.5:c.1769_1770del ENSP00000424757.1:p.Arg590ThrfsTer9
ENST00000510533.5:c.1553_1554del ENSP00000427653.1:p.Arg518ThrfsTer9
ENST00000511633.5:c.1637_1638del ENSP00000423332.1:p.Arg546ThrfsTer9
ENST00000512193.5:c.1478_1479del ENSP00000424938.1:p.Arg493ThrfsTer9
NM_001199397.1:c.1769_1770del NP_001186326.1:p.Arg590ThrfsTer9
NM_001199398.1:c.1637_1638del NP_001186327.1:p.Arg546ThrfsTer9
NM_001199399.1:c.1478_1479del NP_001186328.1:p.Arg493ThrfsTer9
NM_001199400.1:c.1553_1554del NP_001186329.1:p.Arg518ThrfsTer9
NM_012224.2:c.1685_1686del NP_036356.1:p.Arg562ThrfsTer9
XM_006714228.1:c.1769_1770del XP_006714291.1:p.Arg590ThrfsTer9
XM_011532003.1:c.1685_1686del XP_011530305.1:p.Arg562ThrfsTer9
XM_011532004.1:c.1553_1554del XP_011530306.1:p.Arg518ThrfsTer9
XM_011532005.1:c.1769_1770del XP_011530307.1:p.Arg590ThrfsTer9
XM_011532005.2:c.1769_1770del XP_011530307.1:p.Arg590ThrfsTer9
XM_017008249.1:c.1148_1149del XP_016863738.1:p.Arg383ThrfsTer9
XM_017008251.1:c.1064_1065del XP_016863740.1:p.Arg355ThrfsTer9
XM_017008252.2:c.1064_1065del XP_016863741.1:p.Arg355ThrfsTer9
XM_017008253.1:c.617_618del XP_016863742.1:p.Arg206ThrfsTer9
XM_017008254.1:c.413_414del XP_016863743.1:p.Arg138ThrfsTer9
XM_024454065.1:c.1148_1149del XP_024309833.1:p.Arg383ThrfsTer9
XR_001741233.1:n.2349_2350del
XR_001741234.2:n.2162_2163del
NM_001199397.3:c.1769_1770del MANE Select NP_001186326.1:p.Arg590ThrfsTer9
NM_001199398.2:c.1637_1638del NP_001186327.1:p.Arg546ThrfsTer9
NM_001199399.2:c.1478_1479del NP_001186328.1:p.Arg493ThrfsTer9
NM_001199400.2:c.1553_1554del NP_001186329.1:p.Arg518ThrfsTer9
NM_001374418.1:c.1769_1770del NP_001361347.1:p.Arg590ThrfsTer9
NM_001374419.1:c.1685_1686del NP_001361348.1:p.Arg562ThrfsTer9
NM_001374420.1:c.1634_1635del NP_001361349.1:p.Arg545ThrfsTer9
NM_001374421.1:c.1559_1560del NP_001361350.1:p.Arg520ThrfsTer9
NM_012224.3:c.1685_1686del NP_036356.1:p.Arg562ThrfsTer9
NR_164630.1:n.2231_2232del
NM_001199398.3:c.1637_1638del NP_001186327.1:p.Arg546ThrfsTer9
NM_001199399.3:c.1478_1479del NP_001186328.1:p.Arg493ThrfsTer9
NM_001199400.3:c.1553_1554del NP_001186329.1:p.Arg518ThrfsTer9
NM_012224.4:c.1685_1686del NP_036356.1:p.Arg562ThrfsTer9