Canonical Allele Identifier: CA645544871
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37125262del , CM000667.2:g.37125262del GRCh38
NC_000005.9:g.37125364del , CM000667.1:g.37125364del GRCh37
NC_000005.8:g.37161121del NCBI36
NG_032772.1:g.129167del
NG_032772.2:g.129167del

Transcript Alleles

HGVS Amino-acid change
ENST00000510830.2:n.1939del
ENST00000651892.2:c.8940del MANE Select ENSP00000498265.2:p.Cys2981ValfsTer9
ENST00000676160.1:n.801del
ENST00000425232.6:c.8778del ENSP00000389014.2:p.Cys2927ValfsTer9
ENST00000508244.5:c.8778del ENSP00000421690.1:p.Cys2927ValfsTer9
ENST00000509849.5:c.5952del ENSP00000426337.1:n.5952del
ENST00000509957.5:n.4121del
ENST00000512288.5:n.342-3478del
ENST00000514429.5:c.5976del ENSP00000424223.1:p.Cys1993ValfsTer9
NM_023073.3:c.8778del NP_075561.3:p.Cys2927ValfsTer9
XM_005248345.2:c.8940del XP_005248402.1:p.Cys2981ValfsTer9
XM_005248346.2:c.8937del XP_005248403.1:p.Cys2980ValfsTer9
XM_005248347.2:c.8937del XP_005248404.1:p.Cys2980ValfsTer9
XM_005248349.2:c.8829del XP_005248406.1:p.Cys2944ValfsTer9
XM_005248350.2:c.8811del XP_005248407.1:p.Cys2938ValfsTer9
XM_005248353.3:c.5583del XP_005248410.1:p.Cys1862ValfsTer9
XM_006714489.2:c.8940del XP_006714552.1:p.Cys2981ValfsTer9
XM_006714491.2:c.3513del XP_006714554.1:p.Cys1172ValfsTer9
XM_011514085.1:c.8940del XP_011512387.1:p.Cys2981ValfsTer9
XM_011514086.1:c.8940del XP_011512388.1:p.Cys2981ValfsTer9
XM_011514087.1:c.8886del XP_011512389.1:p.Cys2963ValfsTer9
XM_011514088.1:c.8832del XP_011512390.1:p.Cys2945ValfsTer9
XM_011514089.1:c.8940del XP_011512391.1:p.Cys2981ValfsTer9
XM_011514090.1:c.8622del XP_011512392.1:p.Cys2875ValfsTer9
XM_011514091.1:c.8268del XP_011512393.1:p.Cys2757ValfsTer9
XM_011514092.1:c.8940del XP_011512394.1:p.Cys2981ValfsTer9
XM_011514094.1:c.6165del XP_011512396.1:p.Cys2056ValfsTer9
XR_427661.2:n.9115del
XR_925644.1:n.9115del
XM_005248345.4:c.8940del XP_005248402.1:p.Cys2981ValfsTer9
XM_005248346.4:c.8937del XP_005248403.1:p.Cys2980ValfsTer9
XM_005248347.4:c.8937del XP_005248404.1:p.Cys2980ValfsTer9
XM_005248349.4:c.8829del XP_005248406.1:p.Cys2944ValfsTer9
XM_005248350.4:c.8811del XP_005248407.1:p.Cys2938ValfsTer9
XM_006714491.3:c.3513del XP_006714554.1:p.Cys1172ValfsTer9
XM_011514085.3:c.8940del XP_011512387.1:p.Cys2981ValfsTer9
XM_011514086.3:c.8940del XP_011512388.1:p.Cys2981ValfsTer9
XM_011514087.2:c.8886del XP_011512389.1:p.Cys2963ValfsTer9
XM_011514088.2:c.8832del XP_011512390.1:p.Cys2945ValfsTer9
XM_011514089.2:c.8940del XP_011512391.1:p.Cys2981ValfsTer9
XM_011514090.3:c.8622del XP_011512392.1:p.Cys2875ValfsTer9
XM_011514092.2:c.8940del XP_011512394.1:p.Cys2981ValfsTer9
XM_011514094.2:c.6165del XP_011512396.1:p.Cys2056ValfsTer9
XM_017009760.1:c.8751del XP_016865249.1:p.Cys2918ValfsTer9
XM_017009761.2:c.8751del XP_016865250.1:p.Cys2918ValfsTer9
XM_017009763.1:c.7947del XP_016865252.1:p.Cys2650ValfsTer9
XM_017009765.1:c.7752del XP_016865254.1:p.Cys2585ValfsTer9
XM_017009766.1:c.5583del XP_016865255.1:p.Cys1862ValfsTer9
XM_024446183.1:c.8751del XP_024301951.1:p.Cys2918ValfsTer9
XM_024446184.1:c.8622del XP_024301952.1:p.Cys2875ValfsTer9
XM_024446185.1:c.8268del XP_024301953.1:p.Cys2757ValfsTer9
XM_024446186.1:c.7947del XP_024301954.1:p.Cys2650ValfsTer9
XR_925644.2:n.9164del
NM_001384732.1:c.8940del MANE Select NP_001371661.1:p.Cys2981ValfsTer9
NM_023073.4:c.8778del NP_075561.3:p.Cys2927ValfsTer9