Canonical Allele Identifier: CA2765914194
Gene: CPLANE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37154145_37154149del , CM000667.2:g.37154145_37154149del GRCh38
NC_000005.9:g.37154247_37154251del , CM000667.1:g.37154247_37154251del GRCh37
NC_000005.8:g.37190004_37190008del NCBI36
NG_032772.1:g.100280_100284del
NG_032772.2:g.100280_100284del

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1119-156_1119-152del
ENST00000651892.2:c.8120-156_8120-152del MANE Select ENSP00000498265.2:n.8120-156_8120-152del
ENST00000425232.6:c.7958-156_7958-152del ENSP00000389014.2:n.7958-156_7958-152del
ENST00000508244.5:c.7958-156_7958-152del ENSP00000421690.1:n.7958-156_7958-152del
ENST00000509849.5:c.5132-156_5132-152del ENSP00000426337.1:n.5132-156_5132-152del
ENST00000509957.5:n.362-156_362-152del
ENST00000511210.5:n.411-156_411-152del
ENST00000511824.2:c.1234-156_1234-152del
ENST00000514429.5:c.5156-156_5156-152del ENSP00000424223.1:n.5156-156_5156-152del
ENST00000515380.1:n.372-156_372-152del
NM_023073.3:c.7958-156_7958-152del NP_075561.3:n.7958-156_7958-152del
XM_005248345.2:c.8120-156_8120-152del XP_005248402.1:n.8120-156_8120-152del
XM_005248346.2:c.8117-156_8117-152del XP_005248403.1:n.8117-156_8117-152del
XM_005248347.2:c.8117-156_8117-152del XP_005248404.1:n.8117-156_8117-152del
XM_005248349.2:c.8009-156_8009-152del XP_005248406.1:n.8009-156_8009-152del
XM_005248350.2:c.7991-156_7991-152del XP_005248407.1:n.7991-156_7991-152del
XM_005248353.3:c.4763-156_4763-152del XP_005248410.1:n.4763-156_4763-152del
XM_006714489.2:c.8120-156_8120-152del XP_006714552.1:n.8120-156_8120-152del
XM_006714491.2:c.2693-156_2693-152del XP_006714554.1:n.2693-156_2693-152del
XM_011514085.1:c.8120-156_8120-152del XP_011512387.1:n.8120-156_8120-152del
XM_011514086.1:c.8120-156_8120-152del XP_011512388.1:n.8120-156_8120-152del
XM_011514087.1:c.8066-156_8066-152del XP_011512389.1:n.8066-156_8066-152del
XM_011514088.1:c.8012-156_8012-152del XP_011512390.1:n.8012-156_8012-152del
XM_011514089.1:c.8120-156_8120-152del XP_011512391.1:n.8120-156_8120-152del
XM_011514090.1:c.7802-156_7802-152del XP_011512392.1:n.7802-156_7802-152del
XM_011514091.1:c.7448-156_7448-152del XP_011512393.1:n.7448-156_7448-152del
XM_011514092.1:c.8120-156_8120-152del XP_011512394.1:n.8120-156_8120-152del
XM_011514094.1:c.5345-156_5345-152del XP_011512396.1:n.5345-156_5345-152del
XR_427661.2:n.8295-156_8295-152del
XR_925644.1:n.8295-156_8295-152del
XM_005248345.4:c.8120-156_8120-152del XP_005248402.1:n.8120-156_8120-152del
XM_005248346.4:c.8117-156_8117-152del XP_005248403.1:n.8117-156_8117-152del
XM_005248347.4:c.8117-156_8117-152del XP_005248404.1:n.8117-156_8117-152del
XM_005248349.4:c.8009-156_8009-152del XP_005248406.1:n.8009-156_8009-152del
XM_005248350.4:c.7991-156_7991-152del XP_005248407.1:n.7991-156_7991-152del
XM_006714491.3:c.2693-156_2693-152del XP_006714554.1:n.2693-156_2693-152del
XM_011514085.3:c.8120-156_8120-152del XP_011512387.1:n.8120-156_8120-152del
XM_011514086.3:c.8120-156_8120-152del XP_011512388.1:n.8120-156_8120-152del
XM_011514087.2:c.8066-156_8066-152del XP_011512389.1:n.8066-156_8066-152del
XM_011514088.2:c.8012-156_8012-152del XP_011512390.1:n.8012-156_8012-152del
XM_011514089.2:c.8120-156_8120-152del XP_011512391.1:n.8120-156_8120-152del
XM_011514090.3:c.7802-156_7802-152del XP_011512392.1:n.7802-156_7802-152del
XM_011514092.2:c.8120-156_8120-152del XP_011512394.1:n.8120-156_8120-152del
XM_011514094.2:c.5345-156_5345-152del XP_011512396.1:n.5345-156_5345-152del
XM_017009760.1:c.7931-156_7931-152del XP_016865249.1:n.7931-156_7931-152del
XM_017009761.2:c.7931-156_7931-152del XP_016865250.1:n.7931-156_7931-152del
XM_017009763.1:c.7127-156_7127-152del XP_016865252.1:n.7127-156_7127-152del
XM_017009765.1:c.6932-156_6932-152del XP_016865254.1:n.6932-156_6932-152del
XM_017009766.1:c.4763-156_4763-152del XP_016865255.1:n.4763-156_4763-152del
XM_024446183.1:c.7931-156_7931-152del XP_024301951.1:n.7931-156_7931-152del
XM_024446184.1:c.7802-156_7802-152del XP_024301952.1:n.7802-156_7802-152del
XM_024446185.1:c.7448-156_7448-152del XP_024301953.1:n.7448-156_7448-152del
XM_024446186.1:c.7127-156_7127-152del XP_024301954.1:n.7127-156_7127-152del
XR_001742208.1:n.8289-156_8289-152del
XR_002956171.1:n.8235-156_8235-152del
XR_925644.2:n.8344-156_8344-152del
NM_001384732.1:c.8120-156_8120-152del MANE Select NP_001371661.1:n.8120-156_8120-152del
NM_023073.4:c.7958-156_7958-152del NP_075561.3:n.7958-156_7958-152del