Canonical Allele Identifier: CA559295466
Gene: CPLANE1 HGNC NCBI

Linked Data

dbSNP Id: rs1396772255

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153725_37153729del , CM000667.2:g.37153725_37153729del GRCh38
NC_000005.9:g.37153827_37153831del , CM000667.1:g.37153827_37153831del GRCh37
NC_000005.8:g.37189584_37189588del NCBI36
NG_032772.1:g.100703_100707del
NG_032772.2:g.100703_100707del

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1372+14_1372+18del
ENST00000651892.2:c.8373+14_8373+18del MANE Select ENSP00000498265.2:n.8373+14_8373+18del
ENST00000425232.6:c.8211+14_8211+18del ENSP00000389014.2:n.8211+14_8211+18del
ENST00000508244.5:c.8211+14_8211+18del ENSP00000421690.1:n.8211+14_8211+18del
ENST00000508405.1:n.105+14_105+18del
ENST00000509849.5:c.5385+14_5385+18del ENSP00000426337.1:n.5385+14_5385+18del
ENST00000509957.5:n.615+14_615+18del
ENST00000514429.5:c.5409+14_5409+18del ENSP00000424223.1:n.5409+14_5409+18del
NM_023073.3:c.8211+14_8211+18del NP_075561.3:n.8211+14_8211+18del
XM_005248345.2:c.8373+14_8373+18del XP_005248402.1:n.8373+14_8373+18del
XM_005248346.2:c.8370+14_8370+18del XP_005248403.1:n.8370+14_8370+18del
XM_005248347.2:c.8370+14_8370+18del XP_005248404.1:n.8370+14_8370+18del
XM_005248349.2:c.8262+14_8262+18del XP_005248406.1:n.8262+14_8262+18del
XM_005248350.2:c.8244+14_8244+18del XP_005248407.1:n.8244+14_8244+18del
XM_005248353.3:c.5016+14_5016+18del XP_005248410.1:n.5016+14_5016+18del
XM_006714489.2:c.8373+14_8373+18del XP_006714552.1:n.8373+14_8373+18del
XM_006714491.2:c.2946+14_2946+18del XP_006714554.1:n.2946+14_2946+18del
XM_011514085.1:c.8373+14_8373+18del XP_011512387.1:n.8373+14_8373+18del
XM_011514086.1:c.8373+14_8373+18del XP_011512388.1:n.8373+14_8373+18del
XM_011514087.1:c.8319+14_8319+18del XP_011512389.1:n.8319+14_8319+18del
XM_011514088.1:c.8265+14_8265+18del XP_011512390.1:n.8265+14_8265+18del
XM_011514089.1:c.8373+14_8373+18del XP_011512391.1:n.8373+14_8373+18del
XM_011514090.1:c.8055+14_8055+18del XP_011512392.1:n.8055+14_8055+18del
XM_011514091.1:c.7701+14_7701+18del XP_011512393.1:n.7701+14_7701+18del
XM_011514092.1:c.8373+14_8373+18del XP_011512394.1:n.8373+14_8373+18del
XM_011514094.1:c.5598+14_5598+18del XP_011512396.1:n.5598+14_5598+18del
XR_427661.2:n.8548+14_8548+18del
XR_925644.1:n.8548+14_8548+18del
XM_005248345.4:c.8373+14_8373+18del XP_005248402.1:n.8373+14_8373+18del
XM_005248346.4:c.8370+14_8370+18del XP_005248403.1:n.8370+14_8370+18del
XM_005248347.4:c.8370+14_8370+18del XP_005248404.1:n.8370+14_8370+18del
XM_005248349.4:c.8262+14_8262+18del XP_005248406.1:n.8262+14_8262+18del
XM_005248350.4:c.8244+14_8244+18del XP_005248407.1:n.8244+14_8244+18del
XM_006714491.3:c.2946+14_2946+18del XP_006714554.1:n.2946+14_2946+18del
XM_011514085.3:c.8373+14_8373+18del XP_011512387.1:n.8373+14_8373+18del
XM_011514086.3:c.8373+14_8373+18del XP_011512388.1:n.8373+14_8373+18del
XM_011514087.2:c.8319+14_8319+18del XP_011512389.1:n.8319+14_8319+18del
XM_011514088.2:c.8265+14_8265+18del XP_011512390.1:n.8265+14_8265+18del
XM_011514089.2:c.8373+14_8373+18del XP_011512391.1:n.8373+14_8373+18del
XM_011514090.3:c.8055+14_8055+18del XP_011512392.1:n.8055+14_8055+18del
XM_011514092.2:c.8373+14_8373+18del XP_011512394.1:n.8373+14_8373+18del
XM_011514094.2:c.5598+14_5598+18del XP_011512396.1:n.5598+14_5598+18del
XM_017009760.1:c.8184+14_8184+18del XP_016865249.1:n.8184+14_8184+18del
XM_017009761.2:c.8184+14_8184+18del XP_016865250.1:n.8184+14_8184+18del
XM_017009763.1:c.7380+14_7380+18del XP_016865252.1:n.7380+14_7380+18del
XM_017009765.1:c.7185+14_7185+18del XP_016865254.1:n.7185+14_7185+18del
XM_017009766.1:c.5016+14_5016+18del XP_016865255.1:n.5016+14_5016+18del
XM_024446183.1:c.8184+14_8184+18del XP_024301951.1:n.8184+14_8184+18del
XM_024446184.1:c.8055+14_8055+18del XP_024301952.1:n.8055+14_8055+18del
XM_024446185.1:c.7701+14_7701+18del XP_024301953.1:n.7701+14_7701+18del
XM_024446186.1:c.7380+14_7380+18del XP_024301954.1:n.7380+14_7380+18del
XR_001742208.1:n.8542+14_8542+18del
XR_002956171.1:n.8488+14_8488+18del
XR_925644.2:n.8597+14_8597+18del
NM_001384732.1:c.8373+14_8373+18del MANE Select NP_001371661.1:n.8373+14_8373+18del
NM_023073.4:c.8211+14_8211+18del NP_075561.3:n.8211+14_8211+18del