Canonical Allele Identifier: CA658657898
Gene: CDK5RAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 452860
ClinVar RCV Id: RCV000520374
dbSNP Id: rs1554734754

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120419924_120419926delinsTAC , CM000671.2:g.120419924_120419926delinsTAC GRCh38
NC_000009.11:g.123182202_123182204delinsTAC , CM000671.1:g.123182202_123182204delinsTAC GRCh37
NC_000009.10:g.122222023_122222025delinsTAC NCBI36
NG_008999.1:g.165234_165236delinsGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.3349_3351delinsGTA ENSP00000354065.4:p.Leu1117Val
ENST00000416449.6:c.3943_3945delinsGTA ENSP00000400395.2:p.Leu1315Val
ENST00000479584.2:n.2286_2288delinsGTA
ENST00000684780.1:n.4329_4331delinsGTA
ENST00000685866.1:c.*1866_*1868delinsGTA ENSP00000509484.1:n.*1866_*1868delinsGTA
ENST00000686376.1:c.4119_4121delinsGTA ENSP00000510021.1:n.4119_4121delinsGTA
ENST00000686842.1:n.7593_7595delinsGTA
ENST00000687279.1:c.4036_4038delinsGTA ENSP00000508692.1:p.Leu1346Val
ENST00000687311.1:n.4002_4004delinsGTA
ENST00000687633.1:c.3940_3942delinsGTA ENSP00000510289.1:p.Leu1314Val
ENST00000688923.1:n.3411_3413delinsGTA
ENST00000689688.1:c.4039_4041delinsGTA ENSP00000510155.1:p.Leu1347Val
ENST00000690646.1:c.3943_3945delinsGTA ENSP00000510383.1:p.Leu1315Val
ENST00000690814.1:c.*1215_*1217delinsGTA ENSP00000508792.1:n.*1215_*1217delinsGTA
ENST00000691504.1:n.3933_3935delinsGTA
ENST00000691551.1:c.208_210delinsGTA
ENST00000692155.1:c.4119_4121delinsGTA ENSP00000510290.1:n.4119_4121delinsGTA
ENST00000692746.1:n.3946_3948delinsGTA
ENST00000693386.1:c.3909-25_3909-23delinsGTA ENSP00000510003.1:n.3909-25_3909-23delinsGTA
ENST00000693433.1:n.3933_3935delinsGTA
ENST00000693714.1:n.3986_3988delinsGTA
ENST00000693728.1:c.3943_3945delinsGTA ENSP00000510580.1:p.Leu1315Val
ENST00000349780.9:c.4039_4041delinsGTA MANE Select ENSP00000343818.4:p.Leu1347Val
ENST00000349780.8:c.4039_4041delinsGTA ENSP00000343818.4:p.Leu1347Val
ENST00000360190.8:c.4039_4041delinsGTA ENSP00000353317.4:p.Leu1347Val
ENST00000360822.7:c.3349_3351delinsGTA ENSP00000354065.4:p.Leu1117Val
ENST00000416449.5:c.2221_2223delinsGTA ENSP00000400395.1:p.Leu741Val
ENST00000425647.1:c.1069_1071delinsGTA ENSP00000409941.1:p.Leu357Val
ENST00000473282.6:c.*2863_*2865delinsGTA ENSP00000419265.1:n.*2863_*2865delinsGTA
ENST00000480112.5:c.*1866_*1868delinsGTA ENSP00000418418.1:n.*1866_*1868delinsGTA
ENST00000483412.5:n.3347_3349delinsGTA
NM_001011649.2:c.4039_4041delinsGTA NP_001011649.1:p.Leu1347Val
NM_001272039.1:c.3349_3351delinsGTA NP_001258968.1:p.Leu1117Val
NM_018249.5:c.4039_4041delinsGTA NP_060719.4:p.Leu1347Val
NR_073554.1:n.4308_4310delinsGTA
NR_073555.1:n.4231_4233delinsGTA
NR_073556.1:n.4438_4440delinsGTA
NR_073557.1:n.4311_4313delinsGTA
NR_073558.1:n.4308_4310delinsGTA
XM_006717182.1:c.3943_3945delinsGTA XP_006717245.1:p.Leu1315Val
XM_006717185.1:c.3352_3354delinsGTA XP_006717248.1:p.Leu1118Val
XM_011518860.1:c.4036_4038delinsGTA XP_011517162.1:p.Leu1346Val
XM_011518861.1:c.4036_4038delinsGTA XP_011517163.1:p.Leu1346Val
XM_017014921.1:c.3940_3942delinsGTA XP_016870410.1:p.Leu1314Val
XM_017014922.1:c.3205_3207delinsGTA XP_016870411.1:p.Leu1069Val
XM_017014923.1:c.3352_3354delinsGTA XP_016870412.1:p.Leu1118Val
XM_017014924.1:c.1834_1836delinsGTA XP_016870413.1:p.Leu612Val
NM_018249.6:c.4039_4041delinsGTA MANE Select NP_060719.4:p.Leu1347Val
NM_001011649.3:c.4039_4041delinsGTA NP_001011649.1:p.Leu1347Val
NR_073554.2:n.4305_4307delinsGTA
NR_073555.2:n.4228_4230delinsGTA
NR_073556.2:n.4435_4437delinsGTA
NR_073557.2:n.4308_4310delinsGTA
NR_073558.2:n.4305_4307delinsGTA
NM_001272039.2:c.3349_3351delinsGTA NP_001258968.1:p.Leu1117Val