Canonical Allele Identifier: CA2672642086
Gene: NEK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169508774_169508787del , CM000666.2:g.169508774_169508787del GRCh38
NC_000004.11:g.170429925_170429938del , CM000666.1:g.170429925_170429938del GRCh37
NC_000004.10:g.170666500_170666513del NCBI36
NG_027982.1:g.108845_108858del

Transcript Alleles

HGVS Amino-acid Change
ENST00000685111.1:c.1582-452_1582-439del ENSP00000508844.1:n.1582-452_1582-439del
ENST00000685677.1:n.1033_1046del
ENST00000686697.1:c.1540-452_1540-439del ENSP00000508689.1:n.1540-452_1540-439del
ENST00000687054.1:n.2244-452_2244-439del
ENST00000687219.1:c.*1253-452_*1253-439del ENSP00000509736.1:n.*1253-452_*1253-439del
ENST00000687528.1:c.1603_1616del ENSP00000510228.1:p.Asn535GlyfsTer16
ENST00000687643.1:c.1693-452_1693-439del ENSP00000509309.1:n.1693-452_1693-439del
ENST00000688934.1:c.-132-452_-132-439del ENSP00000510760.1:n.-132-452_-132-439del
ENST00000689190.1:n.1184_1197del
ENST00000692450.1:c.*1400_*1413del ENSP00000510283.1:n.*1400_*1413del
ENST00000693085.1:c.*1493-452_*1493-439del ENSP00000508746.1:n.*1493-452_*1493-439del
ENST00000693604.1:c.*684-452_*684-439del ENSP00000509917.1:n.*684-452_*684-439del
ENST00000507142.6:c.1735_1748del MANE Select ENSP00000424757.2:p.Asn579GlyfsTer16
ENST00000439128.6:c.1666-452_1666-439del ENSP00000408020.2:n.1666-452_1666-439del
ENST00000507142.5:c.1735_1748del ENSP00000424757.1:p.Asn579GlyfsTer16
ENST00000510533.5:c.1534-452_1534-439del ENSP00000427653.1:n.1534-452_1534-439del
ENST00000511633.5:c.1603_1616del ENSP00000423332.1:p.Asn535GlyfsTer16
ENST00000512193.5:c.1459-452_1459-439del ENSP00000424938.1:n.1459-452_1459-439del
NM_001199397.1:c.1735_1748del NP_001186326.1:p.Asn579GlyfsTer16
NM_001199398.1:c.1603_1616del NP_001186327.1:p.Asn535GlyfsTer16
NM_001199399.1:c.1459-452_1459-439del NP_001186328.1:n.1459-452_1459-439del
NM_001199400.1:c.1534-452_1534-439del NP_001186329.1:n.1534-452_1534-439del
NM_012224.2:c.1666-452_1666-439del NP_036356.1:n.1666-452_1666-439del
XM_006714228.1:c.1735_1748del XP_006714291.1:p.Asn579GlyfsTer16
XM_011532003.1:c.1666-452_1666-439del XP_011530305.1:n.1666-452_1666-439del
XM_011532004.1:c.1534-452_1534-439del XP_011530306.1:n.1534-452_1534-439del
XM_011532005.1:c.1735_1748del XP_011530307.1:p.Asn579GlyfsTer16
XM_011532005.2:c.1735_1748del XP_011530307.1:p.Asn579GlyfsTer16
XM_017008249.1:c.1114_1127del XP_016863738.1:p.Asn372GlyfsTer16
XM_017008251.1:c.1045-452_1045-439del XP_016863740.1:n.1045-452_1045-439del
XM_017008252.2:c.1045-452_1045-439del XP_016863741.1:n.1045-452_1045-439del
XM_017008253.1:c.583_596del XP_016863742.1:p.Asn195GlyfsTer16
XM_017008254.1:c.379_392del XP_016863743.1:p.Asn127GlyfsTer16
XM_024454065.1:c.1114_1127del XP_024309833.1:p.Asn372GlyfsTer16
XR_001741233.1:n.2315_2328del
XR_001741234.2:n.2128_2141del
NM_001199397.3:c.1735_1748del MANE Select NP_001186326.1:p.Asn579GlyfsTer16
NM_001199398.2:c.1603_1616del NP_001186327.1:p.Asn535GlyfsTer16
NM_001199399.2:c.1459-452_1459-439del NP_001186328.1:n.1459-452_1459-439del
NM_001199400.2:c.1534-452_1534-439del NP_001186329.1:n.1534-452_1534-439del
NM_001374418.1:c.1735_1748del NP_001361347.1:p.Asn579GlyfsTer16
NM_001374419.1:c.1666-452_1666-439del NP_001361348.1:n.1666-452_1666-439del
NM_001374420.1:c.1615-452_1615-439del NP_001361349.1:n.1615-452_1615-439del
NM_001374421.1:c.1540-452_1540-439del NP_001361350.1:n.1540-452_1540-439del
NM_012224.3:c.1666-452_1666-439del NP_036356.1:n.1666-452_1666-439del
NR_164630.1:n.2212-452_2212-439del
NM_001199398.3:c.1603_1616del NP_001186327.1:p.Asn535GlyfsTer16
NM_001199399.3:c.1459-452_1459-439del NP_001186328.1:n.1459-452_1459-439del
NM_001199400.3:c.1534-452_1534-439del NP_001186329.1:n.1534-452_1534-439del
NM_012224.4:c.1666-452_1666-439del NP_036356.1:n.1666-452_1666-439del