Canonical Allele Identifier: CA2517868330

Gene: CDK5RAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33394057_33394058insGTATTTTAT , CM000682.2:g.33394057_33394058insGTATTTTAT	GRCh38
NC_000020.10:g.31981863_31981864insGTATTTTAT , CM000682.1:g.31981863_31981864insGTATTTTAT	GRCh37
NC_000020.9:g.31445524_31445525insGTATTTTAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346416.7:c.419_420insAAAATACAT MANE Select	ENSP00000217372.2:p.Ile140_Leu141insLysTyrIle
ENST00000339269.5:c.419_420insAAAATACAT	ENSP00000341840.5:p.Ile140_Leu141insLysTyrIle
ENST00000346416.6:c.419_420insAAAATACAT	ENSP00000217372.2:p.Ile140_Leu141insLysTyrIle
ENST00000357886.8:c.419_420insAAAATACAT	ENSP00000350558.4:p.Ile140_Leu141insLysTyrIle
ENST00000460043.5:n.82-1814_82-1813insAAAATACAT
ENST00000461356.5:n.70_71insAAAATACAT
ENST00000471264.5:n.26-1814_26-1813insAAAATACAT
ENST00000473997.5:c.149_150insAAAATACAT	ENSP00000476857.1:p.Ile50_Leu51insLysTyrIle
ENST00000477105.5:n.193_194insAAAATACAT
ENST00000481964.5:n.63_64insAAAATACAT
ENST00000482967.5:n.77+7372_77+7373insAAAATACAT
ENST00000488723.1:n.97-1814_97-1813insAAAATACAT
ENST00000496381.5:n.51+7372_51+7373insAAAATACAT
NM_001278167.1:c.419_420insAAAATACAT	NP_001265096.1:p.Ile140_Leu141insLysTyrIle
NM_001278168.1:c.419_420insAAAATACAT	NP_001265097.1:p.Ile140_Leu141insLysTyrIle
NM_001278169.1:c.338_339insAAAATACAT	NP_001265098.1:p.Ile113_Leu114insLysTyrIle
NM_016082.4:c.422_423insAAAATACAT	NP_057166.4:p.Ile141_Leu142insLysTyrIle
NM_016408.3:c.419_420insAAAATACAT	NP_057492.2:p.Ile140_Leu141insLysTyrIle
XM_011528855.1:c.338_339insAAAATACAT	XP_011527157.1:p.Ile113_Leu114insLysTyrIle
XM_011528856.1:c.132-1814_132-1813insAAAATACAT	XP_011527158.1:n.132-1814_132-1813insAAAATACAT
XM_011528857.1:c.89_90insAAAATACAT	XP_011527159.1:p.Ile30_Leu31insLysTyrIle
XM_011528858.1:c.38_39insAAAATACAT	XP_011527160.1:p.Ile13_Leu14insLysTyrIle
XM_011528859.1:c.38_39insAAAATACAT	XP_011527161.1:p.Ile13_Leu14insLysTyrIle
XM_011528860.1:c.-133_-132insAAAATACAT	XP_011527162.1:n.-133_-132insAAAATACAT
XR_936548.1:n.682_683insAAAATACAT
XR_936549.1:n.682_683insAAAATACAT
NM_001365728.1:c.419_420insAAAATACAT	NP_001352657.1:p.Ile140_Leu141insLysTyrIle
XM_011528856.3:c.132-1814_132-1813insAAAATACAT	XP_011527158.1:n.132-1814_132-1813insAAAATACAT
XM_011528857.2:c.89_90insAAAATACAT	XP_011527159.1:p.Ile30_Leu31insLysTyrIle
XM_011528859.2:c.38_39insAAAATACAT	XP_011527161.1:p.Ile13_Leu14insLysTyrIle
XM_017027876.2:c.-133_-132insAAAATACAT	XP_016883365.1:n.-133_-132insAAAATACAT
XM_024451892.1:c.-138_-137insAAAATACAT	XP_024307660.1:n.-138_-137insAAAATACAT
XM_024451893.1:c.-131_-130insAAAATACAT	XP_024307661.1:n.-131_-130insAAAATACAT
XM_024451894.1:c.-138_-137insAAAATACAT	XP_024307662.1:n.-138_-137insAAAATACAT
XM_024451895.1:c.-138_-137insAAAATACAT	XP_024307663.1:n.-138_-137insAAAATACAT
XM_024451896.1:c.-133_-132insAAAATACAT	XP_024307664.1:n.-133_-132insAAAATACAT
XM_024451897.1:c.-108-1814_-108-1813insAAAATACAT	XP_024307665.1:n.-108-1814_-108-1813insAAAATACAT
XR_001754289.2:n.540_541insAAAATACAT
XR_001754290.2:n.540_541insAAAATACAT
NM_016408.4:c.419_420insAAAATACAT MANE Select	NP_057492.2:p.Ile140_Leu141insLysTyrIle
NM_001278167.2:c.419_420insAAAATACAT	NP_001265096.1:p.Ile140_Leu141insLysTyrIle
NM_001278168.2:c.419_420insAAAATACAT	NP_001265097.1:p.Ile140_Leu141insLysTyrIle