Canonical Allele Identifier: CA2559673377

Gene: NEK5 ALG11

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52035169_52035170insCATGTTTATTTACTTTCAGGACTAGTTCAGACATAGT , CM000675.2:g.52035169_52035170insCATGTTTATTTACTTTCAGGACTAGTTCAGACATAGT	GRCh38
NC_000013.10:g.52609305_52609306insCATGTTTATTTACTTTCAGGACTAGTTCAGACATAGT , CM000675.1:g.52609305_52609306insCATGTTTATTTACTTTCAGGACTAGTTCAGACATAGT	GRCh37
NC_000013.9:g.51507306_51507307insCATGTTTATTTACTTTCAGGACTAGTTCAGACATAGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647945.2:c.*1778_*1779insACTATGTCTGAACTAGTCCTGAAAGTAAATAAACATG (NEK5)	ENSP00000497892.1:n.*1778_*1779insACTATGTCTGAACTAGTCCTGAAAGTA...
ENST00000684899.1:c.*1778_*1779insACTATGTCTGAACTAGTCCTGAAAGTAAATAAACATG (NEK5) MANE Select	ENSP00000509632.1:n.*1778_*1779insACTATGTCTGAACTAGTCCTGAAAGTA...
ENST00000649708.2:c.275+16026_275+16027insCATGTTTATTTACTTTCAGGACTAGTTCAGACATAGT (ALG11)	ENSP00000497459.2:n.275+16026_275+16027insCATGTTTATTTACTTTCAG...
ENST00000652502.1:n.3940_3941insACTATGTCTGAACTAGTCCTGAAAGTAAATAAACATG (NEK5)
ENST00000679495.1:n.44+22707_44+22708insCATGTTTATTTACTTTCAGGACTAGTTCAGACATAGT (ALG11)
ENST00000529080.5:n.2481_2482insACTATGTCTGAACTAGTCCTGAAAGTAAATAAACATG (NEK5)
NM_001365552.1:c.*1778_*1779insACTATGTCTGAACTAGTCCTGAAAGTAAATAAACATG (NEK5) MANE Select	NP_001352481.1:n.*1778_*1779insACTATGTCTGAACTAGTCCTGAAAGTAAAT...