Canonical Allele Identifier: CA2982139509
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169508320_169508321insA , CM000666.2:g.169508320_169508321insA GRCh38
NC_000004.11:g.170429471_170429472insA , CM000666.1:g.170429471_170429472insA GRCh37
NC_000004.10:g.170666046_170666047insA NCBI36
NG_027982.1:g.109307_109308insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000685111.1:c.1592_1593insT ENSP00000508844.1:p.Arg532LysfsTer12
ENST00000685677.1:n.1058_1059insT
ENST00000686697.1:c.1550_1551insT ENSP00000508689.1:p.Arg518LysfsTer12
ENST00000687054.1:n.2254_2255insT
ENST00000687219.1:c.*1263_*1264insT ENSP00000509736.1:n.*1263_*1264insT
ENST00000687528.1:c.1628_1629insT ENSP00000510228.1:p.Arg544LysfsTer12
ENST00000687643.1:c.1703_1704insT ENSP00000509309.1:p.Arg569LysfsTer12
ENST00000688934.1:c.-122_-121insT ENSP00000510760.1:n.-122_-121insT
ENST00000689190.1:n.1646_1647insT
ENST00000692450.1:c.*1425_*1426insT ENSP00000510283.1:n.*1425_*1426insT
ENST00000693085.1:c.*1503_*1504insT ENSP00000508746.1:n.*1503_*1504insT
ENST00000693604.1:c.*694_*695insT ENSP00000509917.1:n.*694_*695insT
ENST00000507142.6:c.1760_1761insT MANE Select ENSP00000424757.2:p.Arg588LysfsTer12
ENST00000439128.6:c.1676_1677insT ENSP00000408020.2:p.Arg560LysfsTer12
ENST00000507142.5:c.1760_1761insT ENSP00000424757.1:p.Arg588LysfsTer12
ENST00000510533.5:c.1544_1545insT ENSP00000427653.1:p.Arg516LysfsTer12
ENST00000511633.5:c.1628_1629insT ENSP00000423332.1:p.Arg544LysfsTer12
ENST00000512193.5:c.1469_1470insT ENSP00000424938.1:p.Arg491LysfsTer12
NM_001199397.1:c.1760_1761insT NP_001186326.1:p.Arg588LysfsTer12
NM_001199398.1:c.1628_1629insT NP_001186327.1:p.Arg544LysfsTer12
NM_001199399.1:c.1469_1470insT NP_001186328.1:p.Arg491LysfsTer12
NM_001199400.1:c.1544_1545insT NP_001186329.1:p.Arg516LysfsTer12
NM_012224.2:c.1676_1677insT NP_036356.1:p.Arg560LysfsTer12
XM_006714228.1:c.1760_1761insT XP_006714291.1:p.Arg588LysfsTer12
XM_011532003.1:c.1676_1677insT XP_011530305.1:p.Arg560LysfsTer12
XM_011532004.1:c.1544_1545insT XP_011530306.1:p.Arg516LysfsTer12
XM_011532005.1:c.1760_1761insT XP_011530307.1:p.Arg588LysfsTer12
XM_011532005.2:c.1760_1761insT XP_011530307.1:p.Arg588LysfsTer12
XM_017008249.1:c.1139_1140insT XP_016863738.1:p.Arg381LysfsTer12
XM_017008251.1:c.1055_1056insT XP_016863740.1:p.Arg353LysfsTer12
XM_017008252.2:c.1055_1056insT XP_016863741.1:p.Arg353LysfsTer12
XM_017008253.1:c.608_609insT XP_016863742.1:p.Arg204LysfsTer12
XM_017008254.1:c.404_405insT XP_016863743.1:p.Arg136LysfsTer12
XM_024454065.1:c.1139_1140insT XP_024309833.1:p.Arg381LysfsTer12
XR_001741233.1:n.2340_2341insT
XR_001741234.2:n.2153_2154insT
NM_001199397.3:c.1760_1761insT MANE Select NP_001186326.1:p.Arg588LysfsTer12
NM_001199398.2:c.1628_1629insT NP_001186327.1:p.Arg544LysfsTer12
NM_001199399.2:c.1469_1470insT NP_001186328.1:p.Arg491LysfsTer12
NM_001199400.2:c.1544_1545insT NP_001186329.1:p.Arg516LysfsTer12
NM_001374418.1:c.1760_1761insT NP_001361347.1:p.Arg588LysfsTer12
NM_001374419.1:c.1676_1677insT NP_001361348.1:p.Arg560LysfsTer12
NM_001374420.1:c.1625_1626insT NP_001361349.1:p.Arg543LysfsTer12
NM_001374421.1:c.1550_1551insT NP_001361350.1:p.Arg518LysfsTer12
NM_012224.3:c.1676_1677insT NP_036356.1:p.Arg560LysfsTer12
NR_164630.1:n.2222_2223insT
NM_001199398.3:c.1628_1629insT NP_001186327.1:p.Arg544LysfsTer12
NM_001199399.3:c.1469_1470insT NP_001186328.1:p.Arg491LysfsTer12
NM_001199400.3:c.1544_1545insT NP_001186329.1:p.Arg516LysfsTer12
NM_012224.4:c.1676_1677insT NP_036356.1:p.Arg560LysfsTer12