Canonical Allele Identifier: CA442071028

Gene: NEK1

Linked Data

• ClinVar Variation Id: 446671
• ClinVar RCV Id: RCV000515894
• dbSNP Id: rs1362848762
• MyVariant Identifiers: chr4:g.170428909del (hg19) ; chr4:g.169507758del (hg38)
• PubMed: PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169507758del , CM000666.2:g.169507758del	GRCh38
NC_000004.11:g.170428909del , CM000666.1:g.170428909del	GRCh37
NC_000004.10:g.170665484del	NCBI36
NG_027982.1:g.109870del

Transcript Alleles

HGVS	Amino-acid change
ENST00000685111.1:c.1700del	ENSP00000508844.1:p.Ser567MetfsTer6
ENST00000685677.1:n.1166del
ENST00000686697.1:c.1658del	ENSP00000508689.1:p.Ser553MetfsTer6
ENST00000687054.1:n.2362del
ENST00000687219.1:c.*1371del	ENSP00000509736.1:n.*1371del
ENST00000687528.1:c.1736del	ENSP00000510228.1:p.Ser579MetfsTer6
ENST00000687643.1:c.1811del	ENSP00000509309.1:p.Ser604MetfsTer6
ENST00000688934.1:c.-14del	ENSP00000510760.1:n.-14del
ENST00000689190.1:n.1754del
ENST00000692450.1:c.*1533del	ENSP00000510283.1:n.*1533del
ENST00000693085.1:c.*1611del	ENSP00000508746.1:n.*1611del
ENST00000693604.1:c.*802del	ENSP00000509917.1:n.*802del
ENST00000507142.6:c.1868del MANE Select	ENSP00000424757.2:p.Ser623MetfsTer6
ENST00000439128.6:c.1784del	ENSP00000408020.2:p.Ser595MetfsTer6
ENST00000507142.5:c.1868del	ENSP00000424757.1:p.Ser623MetfsTer6
ENST00000510533.5:c.1652del	ENSP00000427653.1:p.Ser551MetfsTer6
ENST00000511633.5:c.1736del	ENSP00000423332.1:p.Ser579MetfsTer6
ENST00000512193.5:c.1577del	ENSP00000424938.1:p.Ser526MetfsTer6
NM_001199397.1:c.1868del	NP_001186326.1:p.Ser623MetfsTer6
NM_001199398.1:c.1736del	NP_001186327.1:p.Ser579MetfsTer6
NM_001199399.1:c.1577del	NP_001186328.1:p.Ser526MetfsTer6
NM_001199400.1:c.1652del	NP_001186329.1:p.Ser551MetfsTer6
NM_012224.2:c.1784del	NP_036356.1:p.Ser595MetfsTer6
XM_006714228.1:c.1868del	XP_006714291.1:p.Ser623MetfsTer6
XM_011532003.1:c.1784del	XP_011530305.1:p.Ser595MetfsTer6
XM_011532004.1:c.1652del	XP_011530306.1:p.Ser551MetfsTer6
XM_011532005.1:c.1868del	XP_011530307.1:p.Ser623MetfsTer6
XM_011532005.2:c.1868del	XP_011530307.1:p.Ser623MetfsTer6
XM_017008249.1:c.1247del	XP_016863738.1:p.Ser416MetfsTer6
XM_017008251.1:c.1163del	XP_016863740.1:p.Ser388MetfsTer6
XM_017008252.2:c.1163del	XP_016863741.1:p.Ser388MetfsTer6
XM_017008253.1:c.716del	XP_016863742.1:p.Ser239MetfsTer6
XM_017008254.1:c.512del	XP_016863743.1:p.Ser171MetfsTer6
XM_024454065.1:c.1247del	XP_024309833.1:p.Ser416MetfsTer6
XR_001741233.1:n.2448del
XR_001741234.2:n.2261del
NM_001199397.3:c.1868del MANE Select	NP_001186326.1:p.Ser623MetfsTer6
NM_001199398.2:c.1736del	NP_001186327.1:p.Ser579MetfsTer6
NM_001199399.2:c.1577del	NP_001186328.1:p.Ser526MetfsTer6
NM_001199400.2:c.1652del	NP_001186329.1:p.Ser551MetfsTer6
NM_001374418.1:c.1868del	NP_001361347.1:p.Ser623MetfsTer6
NM_001374419.1:c.1784del	NP_001361348.1:p.Ser595MetfsTer6
NM_001374420.1:c.1733del	NP_001361349.1:p.Ser578MetfsTer6
NM_001374421.1:c.1658del	NP_001361350.1:p.Ser553MetfsTer6
NM_012224.3:c.1784del	NP_036356.1:p.Ser595MetfsTer6
NR_164630.1:n.2330del
NM_001199398.3:c.1736del	NP_001186327.1:p.Ser579MetfsTer6
NM_001199399.3:c.1577del	NP_001186328.1:p.Ser526MetfsTer6
NM_001199400.3:c.1652del	NP_001186329.1:p.Ser551MetfsTer6
NM_012224.4:c.1784del	NP_036356.1:p.Ser595MetfsTer6