Canonical Allele Identifier: CA1511981394
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169508310_169508312delinsGCC , CM000666.2:g.169508310_169508312delinsGCC GRCh38
NC_000004.11:g.170429461_170429463delinsGCC , CM000666.1:g.170429461_170429463delinsGCC GRCh37
NC_000004.10:g.170666036_170666038delinsGCC NCBI36
NG_027982.1:g.109316_109318delinsGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000685111.1:c.1601_1603delinsGGC ENSP00000508844.1:p.Arg534=
ENST00000685677.1:n.1067_1069delinsGGC
ENST00000686697.1:c.1559_1561delinsGGC ENSP00000508689.1:p.Arg520=
ENST00000687054.1:n.2263_2265delinsGGC
ENST00000687219.1:c.*1272_*1274delinsGGC ENSP00000509736.1:n.*1272_*1274delinsGGC
ENST00000687528.1:c.1637_1639delinsGGC ENSP00000510228.1:p.Arg546=
ENST00000687643.1:c.1712_1714delinsGGC ENSP00000509309.1:p.Arg571=
ENST00000688934.1:c.-113_-111delinsGGC ENSP00000510760.1:n.-113_-111delinsGGC
ENST00000689190.1:n.1655_1657delinsGGC
ENST00000692450.1:c.*1434_*1436delinsGGC ENSP00000510283.1:n.*1434_*1436delinsGGC
ENST00000693085.1:c.*1512_*1514delinsGGC ENSP00000508746.1:n.*1512_*1514delinsGGC
ENST00000693604.1:c.*703_*705delinsGGC ENSP00000509917.1:n.*703_*705delinsGGC
ENST00000507142.6:c.1769_1771delinsGGC MANE Select ENSP00000424757.2:p.Arg590=
ENST00000439128.6:c.1685_1687delinsGGC ENSP00000408020.2:p.Arg562=
ENST00000507142.5:c.1769_1771delinsGGC ENSP00000424757.1:p.Arg590=
ENST00000510533.5:c.1553_1555delinsGGC ENSP00000427653.1:p.Arg518=
ENST00000511633.5:c.1637_1639delinsGGC ENSP00000423332.1:p.Arg546=
ENST00000512193.5:c.1478_1480delinsGGC ENSP00000424938.1:p.Arg493=
NM_001199397.1:c.1769_1771delinsGGC NP_001186326.1:p.Arg590=
NM_001199398.1:c.1637_1639delinsGGC NP_001186327.1:p.Arg546=
NM_001199399.1:c.1478_1480delinsGGC NP_001186328.1:p.Arg493=
NM_001199400.1:c.1553_1555delinsGGC NP_001186329.1:p.Arg518=
NM_012224.2:c.1685_1687delinsGGC NP_036356.1:p.Arg562=
XM_006714228.1:c.1769_1771delinsGGC XP_006714291.1:p.Arg590=
XM_011532003.1:c.1685_1687delinsGGC XP_011530305.1:p.Arg562=
XM_011532004.1:c.1553_1555delinsGGC XP_011530306.1:p.Arg518=
XM_011532005.1:c.1769_1771delinsGGC XP_011530307.1:p.Arg590=
XM_011532005.2:c.1769_1771delinsGGC XP_011530307.1:p.Arg590=
XM_017008249.1:c.1148_1150delinsGGC XP_016863738.1:p.Arg383=
XM_017008251.1:c.1064_1066delinsGGC XP_016863740.1:p.Arg355=
XM_017008252.2:c.1064_1066delinsGGC XP_016863741.1:p.Arg355=
XM_017008253.1:c.617_619delinsGGC XP_016863742.1:p.Arg206=
XM_017008254.1:c.413_415delinsGGC XP_016863743.1:p.Arg138=
XM_024454065.1:c.1148_1150delinsGGC XP_024309833.1:p.Arg383=
XR_001741233.1:n.2349_2351delinsGGC
XR_001741234.2:n.2162_2164delinsGGC
NM_001199397.3:c.1769_1771delinsGGC MANE Select NP_001186326.1:p.Arg590=
NM_001199398.2:c.1637_1639delinsGGC NP_001186327.1:p.Arg546=
NM_001199399.2:c.1478_1480delinsGGC NP_001186328.1:p.Arg493=
NM_001199400.2:c.1553_1555delinsGGC NP_001186329.1:p.Arg518=
NM_001374418.1:c.1769_1771delinsGGC NP_001361347.1:p.Arg590=
NM_001374419.1:c.1685_1687delinsGGC NP_001361348.1:p.Arg562=
NM_001374420.1:c.1634_1636delinsGGC NP_001361349.1:p.Arg545=
NM_001374421.1:c.1559_1561delinsGGC NP_001361350.1:p.Arg520=
NM_012224.3:c.1685_1687delinsGGC NP_036356.1:p.Arg562=
NR_164630.1:n.2231_2233delinsGGC
NM_001199398.3:c.1637_1639delinsGGC NP_001186327.1:p.Arg546=
NM_001199399.3:c.1478_1480delinsGGC NP_001186328.1:p.Arg493=
NM_001199400.3:c.1553_1555delinsGGC NP_001186329.1:p.Arg518=
NM_012224.4:c.1685_1687delinsGGC NP_036356.1:p.Arg562=