Canonical Allele Identifier: CA556022273

Gene: NEK1

Linked Data

• dbSNP Id: rs1753734548
• gnomAD v2: 4-170429971-TCCATACATAG-T
• gnomAD v4: 4-169508820-TCCATACATAG-T
• MyVariant Identifiers: chr4:g.170429972_170429981del (hg19) ; chr4:g.169508821_169508830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169508822_169508831del , CM000666.2:g.169508822_169508831del	GRCh38
NC_000004.11:g.170429973_170429982del , CM000666.1:g.170429973_170429982del	GRCh37
NC_000004.10:g.170666548_170666557del	NCBI36
NG_027982.1:g.108798_108807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.1582-499_1582-490del	ENSP00000508844.1:n.1582-499_1582-490del
ENST00000685677.1:n.986_995del
ENST00000686697.1:c.1540-499_1540-490del	ENSP00000508689.1:n.1540-499_1540-490del
ENST00000687054.1:n.2244-499_2244-490del
ENST00000687219.1:c.*1253-499_*1253-490del	ENSP00000509736.1:n.*1253-499_*1253-490del
ENST00000687528.1:c.1556_1565del	ENSP00000510228.1:p.Ala519GlufsTer24
ENST00000687643.1:c.1693-499_1693-490del	ENSP00000509309.1:n.1693-499_1693-490del
ENST00000688934.1:c.-132-499_-132-490del	ENSP00000510760.1:n.-132-499_-132-490del
ENST00000689190.1:n.1137_1146del
ENST00000692450.1:c.*1353_*1362del	ENSP00000510283.1:n.*1353_*1362del
ENST00000693085.1:c.*1493-499_*1493-490del	ENSP00000508746.1:n.*1493-499_*1493-490del
ENST00000693604.1:c.*684-499_*684-490del	ENSP00000509917.1:n.*684-499_*684-490del
ENST00000507142.6:c.1688_1697del MANE Select	ENSP00000424757.2:p.Ala563GlufsTer24
ENST00000439128.6:c.1666-499_1666-490del	ENSP00000408020.2:n.1666-499_1666-490del
ENST00000507142.5:c.1688_1697del	ENSP00000424757.1:p.Ala563GlufsTer24
ENST00000510533.5:c.1534-499_1534-490del	ENSP00000427653.1:n.1534-499_1534-490del
ENST00000511633.5:c.1556_1565del	ENSP00000423332.1:p.Ala519GlufsTer24
ENST00000512193.5:c.1459-499_1459-490del	ENSP00000424938.1:n.1459-499_1459-490del
NM_001199397.1:c.1688_1697del	NP_001186326.1:p.Ala563GlufsTer24
NM_001199398.1:c.1556_1565del	NP_001186327.1:p.Ala519GlufsTer24
NM_001199399.1:c.1459-499_1459-490del	NP_001186328.1:n.1459-499_1459-490del
NM_001199400.1:c.1534-499_1534-490del	NP_001186329.1:n.1534-499_1534-490del
NM_012224.2:c.1666-499_1666-490del	NP_036356.1:n.1666-499_1666-490del
XM_006714228.1:c.1688_1697del	XP_006714291.1:p.Ala563GlufsTer24
XM_011532003.1:c.1666-499_1666-490del	XP_011530305.1:n.1666-499_1666-490del
XM_011532004.1:c.1534-499_1534-490del	XP_011530306.1:n.1534-499_1534-490del
XM_011532005.1:c.1688_1697del	XP_011530307.1:p.Ala563GlufsTer24
XM_011532005.2:c.1688_1697del	XP_011530307.1:p.Ala563GlufsTer24
XM_017008249.1:c.1067_1076del	XP_016863738.1:p.Ala356GlufsTer24
XM_017008251.1:c.1045-499_1045-490del	XP_016863740.1:n.1045-499_1045-490del
XM_017008252.2:c.1045-499_1045-490del	XP_016863741.1:n.1045-499_1045-490del
XM_017008253.1:c.536_545del	XP_016863742.1:p.Ala179GlufsTer24
XM_017008254.1:c.332_341del	XP_016863743.1:p.Ala111GlufsTer24
XM_024454065.1:c.1067_1076del	XP_024309833.1:p.Ala356GlufsTer24
XR_001741233.1:n.2268_2277del
XR_001741234.2:n.2081_2090del
NM_001199397.3:c.1688_1697del MANE Select	NP_001186326.1:p.Ala563GlufsTer24
NM_001199398.2:c.1556_1565del	NP_001186327.1:p.Ala519GlufsTer24
NM_001199399.2:c.1459-499_1459-490del	NP_001186328.1:n.1459-499_1459-490del
NM_001199400.2:c.1534-499_1534-490del	NP_001186329.1:n.1534-499_1534-490del
NM_001374418.1:c.1688_1697del	NP_001361347.1:p.Ala563GlufsTer24
NM_001374419.1:c.1666-499_1666-490del	NP_001361348.1:n.1666-499_1666-490del
NM_001374420.1:c.1615-499_1615-490del	NP_001361349.1:n.1615-499_1615-490del
NM_001374421.1:c.1540-499_1540-490del	NP_001361350.1:n.1540-499_1540-490del
NM_012224.3:c.1666-499_1666-490del	NP_036356.1:n.1666-499_1666-490del
NR_164630.1:n.2212-499_2212-490del
NM_001199398.3:c.1556_1565del	NP_001186327.1:p.Ala519GlufsTer24
NM_001199399.3:c.1459-499_1459-490del	NP_001186328.1:n.1459-499_1459-490del
NM_001199400.3:c.1534-499_1534-490del	NP_001186329.1:n.1534-499_1534-490del
NM_012224.4:c.1666-499_1666-490del	NP_036356.1:n.1666-499_1666-490del