Canonical Allele Identifier: CA645294037
Gene: CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426780
ClinVar RCV Id: RCV000489735
dbSNP Id: rs1085307795

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37168946del , CM000667.2:g.37168946del GRCh38
NC_000005.9:g.37169048del , CM000667.1:g.37169048del GRCh37
NC_000005.8:g.37204805del NCBI36
NG_032772.1:g.85484del
NG_032772.2:g.85484del

Transcript Alleles

HGVS Amino-acid change
ENST00000651892.2:c.7079del MANE Select ENSP00000498265.2:p.Pro2360ArgfsTer?
ENST00000675149.1:n.199del
ENST00000425232.6:c.7079del ENSP00000389014.2:p.Pro2360ArgfsTer?
ENST00000508244.5:c.7079del ENSP00000421690.1:p.Pro2360ArgfsTer?
ENST00000509849.5:c.4091del ENSP00000426337.1:p.Pro1364ArgfsTer?
ENST00000511824.2:c.151del
ENST00000514429.5:c.4223del ENSP00000424223.1:p.Pro1408ArgfsTer?
NM_023073.3:c.7079del NP_075561.3:p.Pro2360ArgfsTer?
XM_005248345.2:c.7079del XP_005248402.1:p.Pro2360ArgfsTer?
XM_005248346.2:c.7076del XP_005248403.1:p.Pro2359ArgfsTer?
XM_005248347.2:c.7076del XP_005248404.1:p.Pro2359ArgfsTer?
XM_005248349.2:c.7076del XP_005248406.1:p.Pro2359ArgfsTer?
XM_005248350.2:c.6950del XP_005248407.1:p.Pro2317ArgfsTer?
XM_005248353.3:c.3722del XP_005248410.1:p.Pro1241ArgfsTer?
XM_006714489.2:c.7079del XP_006714552.1:p.Pro2360ArgfsTer?
XM_006714491.2:c.1652del XP_006714554.1:p.Pro551ArgfsTer?
XM_011514085.1:c.7079del XP_011512387.1:p.Pro2360ArgfsTer?
XM_011514086.1:c.7079del XP_011512388.1:p.Pro2360ArgfsTer?
XM_011514087.1:c.7079del XP_011512389.1:p.Pro2360ArgfsTer?
XM_011514088.1:c.7079del XP_011512390.1:p.Pro2360ArgfsTer?
XM_011514089.1:c.7079del XP_011512391.1:p.Pro2360ArgfsTer?
XM_011514090.1:c.6761del XP_011512392.1:p.Pro2254ArgfsTer?
XM_011514091.1:c.6407del XP_011512393.1:p.Pro2136ArgfsTer?
XM_011514092.1:c.7079del XP_011512394.1:p.Pro2360ArgfsTer?
XM_011514093.1:c.7079del XP_011512395.1:p.Pro2360ArgfsTer?
XM_011514094.1:c.4304del XP_011512396.1:p.Pro1435ArgfsTer?
XR_427661.2:n.7254del
XR_925644.1:n.7254del
XM_005248345.4:c.7079del XP_005248402.1:p.Pro2360ArgfsTer?
XM_005248346.4:c.7076del XP_005248403.1:p.Pro2359ArgfsTer?
XM_005248347.4:c.7076del XP_005248404.1:p.Pro2359ArgfsTer?
XM_005248349.4:c.7076del XP_005248406.1:p.Pro2359ArgfsTer?
XM_005248350.4:c.6950del XP_005248407.1:p.Pro2317ArgfsTer?
XM_006714491.3:c.1652del XP_006714554.1:p.Pro551ArgfsTer?
XM_011514085.3:c.7079del XP_011512387.1:p.Pro2360ArgfsTer?
XM_011514086.3:c.7079del XP_011512388.1:p.Pro2360ArgfsTer?
XM_011514087.2:c.7079del XP_011512389.1:p.Pro2360ArgfsTer?
XM_011514088.2:c.7079del XP_011512390.1:p.Pro2360ArgfsTer?
XM_011514089.2:c.7079del XP_011512391.1:p.Pro2360ArgfsTer?
XM_011514090.3:c.6761del XP_011512392.1:p.Pro2254ArgfsTer?
XM_011514092.2:c.7079del XP_011512394.1:p.Pro2360ArgfsTer?
XM_011514094.2:c.4304del XP_011512396.1:p.Pro1435ArgfsTer?
XM_017009760.1:c.6890del XP_016865249.1:p.Pro2297ArgfsTer?
XM_017009761.2:c.6890del XP_016865250.1:p.Pro2297ArgfsTer?
XM_017009763.1:c.6086del XP_016865252.1:p.Pro2029ArgfsTer?
XM_017009765.1:c.5891del XP_016865254.1:p.Pro1964ArgfsTer?
XM_017009766.1:c.3722del XP_016865255.1:p.Pro1241ArgfsTer?
XM_024446183.1:c.6890del XP_024301951.1:p.Pro2297ArgfsTer?
XM_024446184.1:c.6761del XP_024301952.1:p.Pro2254ArgfsTer?
XM_024446185.1:c.6407del XP_024301953.1:p.Pro2136ArgfsTer?
XM_024446186.1:c.6086del XP_024301954.1:p.Pro2029ArgfsTer?
XR_001742208.1:n.7303del
XR_002956171.1:n.7303del
XR_925644.2:n.7303del
NM_001384732.1:c.7079del MANE Select NP_001371661.1:p.Pro2360ArgfsTer?
NM_023073.4:c.7079del NP_075561.3:p.Pro2360ArgfsTer?