Canonical Allele Identifier: CA2695204264
Gene: CPLANE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153950del , CM000667.2:g.37153950del GRCh38
NC_000005.9:g.37154052del , CM000667.1:g.37154052del GRCh37
NC_000005.8:g.37189809del NCBI36
NG_032772.1:g.100479del
NG_032772.2:g.100479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1162del
ENST00000651892.2:c.8163del MANE Select ENSP00000498265.2:p.Lys2721AsnfsTer?
ENST00000425232.6:c.8001del ENSP00000389014.2:p.Lys2667AsnfsTer?
ENST00000508244.5:c.8001del ENSP00000421690.1:p.Lys2667AsnfsTer?
ENST00000509849.5:c.5175del ENSP00000426337.1:p.Lys1725AsnfsTer?
ENST00000509957.5:n.405del
ENST00000511210.5:n.454del
ENST00000511824.2:c.1277del
ENST00000514429.5:c.5199del ENSP00000424223.1:p.Lys1733AsnfsTer?
ENST00000515380.1:n.415del
NM_023073.3:c.8001del NP_075561.3:p.Lys2667AsnfsTer?
XM_005248345.2:c.8163del XP_005248402.1:p.Lys2721AsnfsTer?
XM_005248346.2:c.8160del XP_005248403.1:p.Lys2720AsnfsTer?
XM_005248347.2:c.8160del XP_005248404.1:p.Lys2720AsnfsTer?
XM_005248349.2:c.8052del XP_005248406.1:p.Lys2684AsnfsTer?
XM_005248350.2:c.8034del XP_005248407.1:p.Lys2678AsnfsTer?
XM_005248353.3:c.4806del XP_005248410.1:p.Lys1602AsnfsTer?
XM_006714489.2:c.8163del XP_006714552.1:p.Lys2721AsnfsTer?
XM_006714491.2:c.2736del XP_006714554.1:p.Lys912AsnfsTer?
XM_011514085.1:c.8163del XP_011512387.1:p.Lys2721AsnfsTer?
XM_011514086.1:c.8163del XP_011512388.1:p.Lys2721AsnfsTer?
XM_011514087.1:c.8109del XP_011512389.1:p.Lys2703AsnfsTer?
XM_011514088.1:c.8055del XP_011512390.1:p.Lys2685AsnfsTer?
XM_011514089.1:c.8163del XP_011512391.1:p.Lys2721AsnfsTer?
XM_011514090.1:c.7845del XP_011512392.1:p.Lys2615AsnfsTer?
XM_011514091.1:c.7491del XP_011512393.1:p.Lys2497AsnfsTer?
XM_011514092.1:c.8163del XP_011512394.1:p.Lys2721AsnfsTer?
XM_011514094.1:c.5388del XP_011512396.1:p.Lys1796AsnfsTer?
XR_427661.2:n.8338del
XR_925644.1:n.8338del
XM_005248345.4:c.8163del XP_005248402.1:p.Lys2721AsnfsTer?
XM_005248346.4:c.8160del XP_005248403.1:p.Lys2720AsnfsTer?
XM_005248347.4:c.8160del XP_005248404.1:p.Lys2720AsnfsTer?
XM_005248349.4:c.8052del XP_005248406.1:p.Lys2684AsnfsTer?
XM_005248350.4:c.8034del XP_005248407.1:p.Lys2678AsnfsTer?
XM_006714491.3:c.2736del XP_006714554.1:p.Lys912AsnfsTer?
XM_011514085.3:c.8163del XP_011512387.1:p.Lys2721AsnfsTer?
XM_011514086.3:c.8163del XP_011512388.1:p.Lys2721AsnfsTer?
XM_011514087.2:c.8109del XP_011512389.1:p.Lys2703AsnfsTer?
XM_011514088.2:c.8055del XP_011512390.1:p.Lys2685AsnfsTer?
XM_011514089.2:c.8163del XP_011512391.1:p.Lys2721AsnfsTer?
XM_011514090.3:c.7845del XP_011512392.1:p.Lys2615AsnfsTer?
XM_011514092.2:c.8163del XP_011512394.1:p.Lys2721AsnfsTer?
XM_011514094.2:c.5388del XP_011512396.1:p.Lys1796AsnfsTer?
XM_017009760.1:c.7974del XP_016865249.1:p.Lys2658AsnfsTer?
XM_017009761.2:c.7974del XP_016865250.1:p.Lys2658AsnfsTer?
XM_017009763.1:c.7170del XP_016865252.1:p.Lys2390AsnfsTer?
XM_017009765.1:c.6975del XP_016865254.1:p.Lys2325AsnfsTer?
XM_017009766.1:c.4806del XP_016865255.1:p.Lys1602AsnfsTer?
XM_024446183.1:c.7974del XP_024301951.1:p.Lys2658AsnfsTer?
XM_024446184.1:c.7845del XP_024301952.1:p.Lys2615AsnfsTer?
XM_024446185.1:c.7491del XP_024301953.1:p.Lys2497AsnfsTer?
XM_024446186.1:c.7170del XP_024301954.1:p.Lys2390AsnfsTer?
XR_001742208.1:n.8332del
XR_002956171.1:n.8278del
XR_925644.2:n.8387del
NM_001384732.1:c.8163del MANE Select NP_001371661.1:p.Lys2721AsnfsTer?
NM_023073.4:c.8001del NP_075561.3:p.Lys2667AsnfsTer?