Canonical Allele Identifier: CA1539651003

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153785_37153787delinsTTC , CM000667.2:g.37153785_37153787delinsTTC	GRCh38
NC_000005.9:g.37153887_37153889delinsTTC , CM000667.1:g.37153887_37153889delinsTTC	GRCh37
NC_000005.8:g.37189644_37189646delinsTTC	NCBI36
NG_032772.1:g.100642_100644delinsGAA
NG_032772.2:g.100642_100644delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1325_1327delinsGAA
ENST00000651892.2:c.8326_8328delinsGAA MANE Select	ENSP00000498265.2:p.Glu2776=
ENST00000425232.6:c.8164_8166delinsGAA	ENSP00000389014.2:p.Glu2722=
ENST00000508244.5:c.8164_8166delinsGAA	ENSP00000421690.1:p.Glu2722=
ENST00000508405.1:n.58_60delinsGAA
ENST00000509849.5:c.5338_5340delinsGAA	ENSP00000426337.1:p.Glu1780=
ENST00000509957.5:n.568_570delinsGAA
ENST00000511824.2:c.1440_1442delinsGAA
ENST00000514429.5:c.5362_5364delinsGAA	ENSP00000424223.1:p.Glu1788=
NM_023073.3:c.8164_8166delinsGAA	NP_075561.3:p.Glu2722=
XM_005248345.2:c.8326_8328delinsGAA	XP_005248402.1:p.Glu2776=
XM_005248346.2:c.8323_8325delinsGAA	XP_005248403.1:p.Glu2775=
XM_005248347.2:c.8323_8325delinsGAA	XP_005248404.1:p.Glu2775=
XM_005248349.2:c.8215_8217delinsGAA	XP_005248406.1:p.Glu2739=
XM_005248350.2:c.8197_8199delinsGAA	XP_005248407.1:p.Glu2733=
XM_005248353.3:c.4969_4971delinsGAA	XP_005248410.1:p.Glu1657=
XM_006714489.2:c.8326_8328delinsGAA	XP_006714552.1:p.Glu2776=
XM_006714491.2:c.2899_2901delinsGAA	XP_006714554.1:p.Glu967=
XM_011514085.1:c.8326_8328delinsGAA	XP_011512387.1:p.Glu2776=
XM_011514086.1:c.8326_8328delinsGAA	XP_011512388.1:p.Glu2776=
XM_011514087.1:c.8272_8274delinsGAA	XP_011512389.1:p.Glu2758=
XM_011514088.1:c.8218_8220delinsGAA	XP_011512390.1:p.Glu2740=
XM_011514089.1:c.8326_8328delinsGAA	XP_011512391.1:p.Glu2776=
XM_011514090.1:c.8008_8010delinsGAA	XP_011512392.1:p.Glu2670=
XM_011514091.1:c.7654_7656delinsGAA	XP_011512393.1:p.Glu2552=
XM_011514092.1:c.8326_8328delinsGAA	XP_011512394.1:p.Glu2776=
XM_011514094.1:c.5551_5553delinsGAA	XP_011512396.1:p.Glu1851=
XR_427661.2:n.8501_8503delinsGAA
XR_925644.1:n.8501_8503delinsGAA
XM_005248345.4:c.8326_8328delinsGAA	XP_005248402.1:p.Glu2776=
XM_005248346.4:c.8323_8325delinsGAA	XP_005248403.1:p.Glu2775=
XM_005248347.4:c.8323_8325delinsGAA	XP_005248404.1:p.Glu2775=
XM_005248349.4:c.8215_8217delinsGAA	XP_005248406.1:p.Glu2739=
XM_005248350.4:c.8197_8199delinsGAA	XP_005248407.1:p.Glu2733=
XM_006714491.3:c.2899_2901delinsGAA	XP_006714554.1:p.Glu967=
XM_011514085.3:c.8326_8328delinsGAA	XP_011512387.1:p.Glu2776=
XM_011514086.3:c.8326_8328delinsGAA	XP_011512388.1:p.Glu2776=
XM_011514087.2:c.8272_8274delinsGAA	XP_011512389.1:p.Glu2758=
XM_011514088.2:c.8218_8220delinsGAA	XP_011512390.1:p.Glu2740=
XM_011514089.2:c.8326_8328delinsGAA	XP_011512391.1:p.Glu2776=
XM_011514090.3:c.8008_8010delinsGAA	XP_011512392.1:p.Glu2670=
XM_011514092.2:c.8326_8328delinsGAA	XP_011512394.1:p.Glu2776=
XM_011514094.2:c.5551_5553delinsGAA	XP_011512396.1:p.Glu1851=
XM_017009760.1:c.8137_8139delinsGAA	XP_016865249.1:p.Glu2713=
XM_017009761.2:c.8137_8139delinsGAA	XP_016865250.1:p.Glu2713=
XM_017009763.1:c.7333_7335delinsGAA	XP_016865252.1:p.Glu2445=
XM_017009765.1:c.7138_7140delinsGAA	XP_016865254.1:p.Glu2380=
XM_017009766.1:c.4969_4971delinsGAA	XP_016865255.1:p.Glu1657=
XM_024446183.1:c.8137_8139delinsGAA	XP_024301951.1:p.Glu2713=
XM_024446184.1:c.8008_8010delinsGAA	XP_024301952.1:p.Glu2670=
XM_024446185.1:c.7654_7656delinsGAA	XP_024301953.1:p.Glu2552=
XM_024446186.1:c.7333_7335delinsGAA	XP_024301954.1:p.Glu2445=
XR_001742208.1:n.8495_8497delinsGAA
XR_002956171.1:n.8441_8443delinsGAA
XR_925644.2:n.8550_8552delinsGAA
NM_001384732.1:c.8326_8328delinsGAA MANE Select	NP_001371661.1:p.Glu2776=
NM_023073.4:c.8164_8166delinsGAA	NP_075561.3:p.Glu2722=