Canonical Allele Identifier: CA2739289739

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125307_37125308dup , CM000667.2:g.37125307_37125308dup	GRCh38
NC_000005.9:g.37125409_37125410dup , CM000667.1:g.37125409_37125410dup	GRCh37
NC_000005.8:g.37161166_37161167dup	NCBI36
NG_032772.1:g.129121_129122dup
NG_032772.2:g.129121_129122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1893_1894dup
ENST00000651892.2:c.8894_8895dup MANE Select	ENSP00000498265.2:p.Leu2966ThrfsTer2
ENST00000676160.1:n.755_756dup
ENST00000425232.6:c.8732_8733dup	ENSP00000389014.2:p.Leu2912ThrfsTer2
ENST00000508244.5:c.8732_8733dup	ENSP00000421690.1:p.Leu2912ThrfsTer2
ENST00000509849.5:c.5906_5907dup	ENSP00000426337.1:n.5906_5907dup
ENST00000509957.5:n.4075_4076dup
ENST00000512288.5:n.342-3524_342-3523dup
ENST00000514429.5:c.5930_5931dup	ENSP00000424223.1:p.Leu1978ThrfsTer2
NM_023073.3:c.8732_8733dup	NP_075561.3:p.Leu2912ThrfsTer2
XM_005248345.2:c.8894_8895dup	XP_005248402.1:p.Leu2966ThrfsTer2
XM_005248346.2:c.8891_8892dup	XP_005248403.1:p.Leu2965ThrfsTer2
XM_005248347.2:c.8891_8892dup	XP_005248404.1:p.Leu2965ThrfsTer2
XM_005248349.2:c.8783_8784dup	XP_005248406.1:p.Leu2929ThrfsTer2
XM_005248350.2:c.8765_8766dup	XP_005248407.1:p.Leu2923ThrfsTer2
XM_005248353.3:c.5537_5538dup	XP_005248410.1:p.Leu1847ThrfsTer2
XM_006714489.2:c.8894_8895dup	XP_006714552.1:p.Leu2966ThrfsTer2
XM_006714491.2:c.3467_3468dup	XP_006714554.1:p.Leu1157ThrfsTer2
XM_011514085.1:c.8894_8895dup	XP_011512387.1:p.Leu2966ThrfsTer2
XM_011514086.1:c.8894_8895dup	XP_011512388.1:p.Leu2966ThrfsTer2
XM_011514087.1:c.8840_8841dup	XP_011512389.1:p.Leu2948ThrfsTer2
XM_011514088.1:c.8786_8787dup	XP_011512390.1:p.Leu2930ThrfsTer2
XM_011514089.1:c.8894_8895dup	XP_011512391.1:p.Leu2966ThrfsTer2
XM_011514090.1:c.8576_8577dup	XP_011512392.1:p.Leu2860ThrfsTer2
XM_011514091.1:c.8222_8223dup	XP_011512393.1:p.Leu2742ThrfsTer2
XM_011514092.1:c.8894_8895dup	XP_011512394.1:p.Leu2966ThrfsTer2
XM_011514094.1:c.6119_6120dup	XP_011512396.1:p.Leu2041ThrfsTer2
XR_427661.2:n.9069_9070dup
XR_925644.1:n.9069_9070dup
XM_005248345.4:c.8894_8895dup	XP_005248402.1:p.Leu2966ThrfsTer2
XM_005248346.4:c.8891_8892dup	XP_005248403.1:p.Leu2965ThrfsTer2
XM_005248347.4:c.8891_8892dup	XP_005248404.1:p.Leu2965ThrfsTer2
XM_005248349.4:c.8783_8784dup	XP_005248406.1:p.Leu2929ThrfsTer2
XM_005248350.4:c.8765_8766dup	XP_005248407.1:p.Leu2923ThrfsTer2
XM_006714491.3:c.3467_3468dup	XP_006714554.1:p.Leu1157ThrfsTer2
XM_011514085.3:c.8894_8895dup	XP_011512387.1:p.Leu2966ThrfsTer2
XM_011514086.3:c.8894_8895dup	XP_011512388.1:p.Leu2966ThrfsTer2
XM_011514087.2:c.8840_8841dup	XP_011512389.1:p.Leu2948ThrfsTer2
XM_011514088.2:c.8786_8787dup	XP_011512390.1:p.Leu2930ThrfsTer2
XM_011514089.2:c.8894_8895dup	XP_011512391.1:p.Leu2966ThrfsTer2
XM_011514090.3:c.8576_8577dup	XP_011512392.1:p.Leu2860ThrfsTer2
XM_011514092.2:c.8894_8895dup	XP_011512394.1:p.Leu2966ThrfsTer2
XM_011514094.2:c.6119_6120dup	XP_011512396.1:p.Leu2041ThrfsTer2
XM_017009760.1:c.8705_8706dup	XP_016865249.1:p.Leu2903ThrfsTer2
XM_017009761.2:c.8705_8706dup	XP_016865250.1:p.Leu2903ThrfsTer2
XM_017009763.1:c.7901_7902dup	XP_016865252.1:p.Leu2635ThrfsTer2
XM_017009765.1:c.7706_7707dup	XP_016865254.1:p.Leu2570ThrfsTer2
XM_017009766.1:c.5537_5538dup	XP_016865255.1:p.Leu1847ThrfsTer2
XM_024446183.1:c.8705_8706dup	XP_024301951.1:p.Leu2903ThrfsTer2
XM_024446184.1:c.8576_8577dup	XP_024301952.1:p.Leu2860ThrfsTer2
XM_024446185.1:c.8222_8223dup	XP_024301953.1:p.Leu2742ThrfsTer2
XM_024446186.1:c.7901_7902dup	XP_024301954.1:p.Leu2635ThrfsTer2
XR_925644.2:n.9118_9119dup
NM_001384732.1:c.8894_8895dup MANE Select	NP_001371661.1:p.Leu2966ThrfsTer2
NM_023073.4:c.8732_8733dup	NP_075561.3:p.Leu2912ThrfsTer2