Canonical Allele Identifier: CA2765914095

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153940_37153942del , CM000667.2:g.37153940_37153942del	GRCh38
NC_000005.9:g.37154042_37154044del , CM000667.1:g.37154042_37154044del	GRCh37
NC_000005.8:g.37189799_37189801del	NCBI36
NG_032772.1:g.100488_100490del
NG_032772.2:g.100488_100490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1171_1173del
ENST00000651892.2:c.8172_8174del MANE Select	ENSP00000498265.2:p.Ala2725del
ENST00000425232.6:c.8010_8012del	ENSP00000389014.2:p.Ala2671del
ENST00000508244.5:c.8010_8012del	ENSP00000421690.1:p.Ala2671del
ENST00000509849.5:c.5184_5186del	ENSP00000426337.1:p.Ala1729del
ENST00000509957.5:n.414_416del
ENST00000511210.5:n.463_465del
ENST00000511824.2:c.1286_1288del
ENST00000514429.5:c.5208_5210del	ENSP00000424223.1:p.Ala1737del
ENST00000515380.1:n.424_426del
NM_023073.3:c.8010_8012del	NP_075561.3:p.Ala2671del
XM_005248345.2:c.8172_8174del	XP_005248402.1:p.Ala2725del
XM_005248346.2:c.8169_8171del	XP_005248403.1:p.Ala2724del
XM_005248347.2:c.8169_8171del	XP_005248404.1:p.Ala2724del
XM_005248349.2:c.8061_8063del	XP_005248406.1:p.Ala2688del
XM_005248350.2:c.8043_8045del	XP_005248407.1:p.Ala2682del
XM_005248353.3:c.4815_4817del	XP_005248410.1:p.Ala1606del
XM_006714489.2:c.8172_8174del	XP_006714552.1:p.Ala2725del
XM_006714491.2:c.2745_2747del	XP_006714554.1:p.Ala916del
XM_011514085.1:c.8172_8174del	XP_011512387.1:p.Ala2725del
XM_011514086.1:c.8172_8174del	XP_011512388.1:p.Ala2725del
XM_011514087.1:c.8118_8120del	XP_011512389.1:p.Ala2707del
XM_011514088.1:c.8064_8066del	XP_011512390.1:p.Ala2689del
XM_011514089.1:c.8172_8174del	XP_011512391.1:p.Ala2725del
XM_011514090.1:c.7854_7856del	XP_011512392.1:p.Ala2619del
XM_011514091.1:c.7500_7502del	XP_011512393.1:p.Ala2501del
XM_011514092.1:c.8172_8174del	XP_011512394.1:p.Ala2725del
XM_011514094.1:c.5397_5399del	XP_011512396.1:p.Ala1800del
XR_427661.2:n.8347_8349del
XR_925644.1:n.8347_8349del
XM_005248345.4:c.8172_8174del	XP_005248402.1:p.Ala2725del
XM_005248346.4:c.8169_8171del	XP_005248403.1:p.Ala2724del
XM_005248347.4:c.8169_8171del	XP_005248404.1:p.Ala2724del
XM_005248349.4:c.8061_8063del	XP_005248406.1:p.Ala2688del
XM_005248350.4:c.8043_8045del	XP_005248407.1:p.Ala2682del
XM_006714491.3:c.2745_2747del	XP_006714554.1:p.Ala916del
XM_011514085.3:c.8172_8174del	XP_011512387.1:p.Ala2725del
XM_011514086.3:c.8172_8174del	XP_011512388.1:p.Ala2725del
XM_011514087.2:c.8118_8120del	XP_011512389.1:p.Ala2707del
XM_011514088.2:c.8064_8066del	XP_011512390.1:p.Ala2689del
XM_011514089.2:c.8172_8174del	XP_011512391.1:p.Ala2725del
XM_011514090.3:c.7854_7856del	XP_011512392.1:p.Ala2619del
XM_011514092.2:c.8172_8174del	XP_011512394.1:p.Ala2725del
XM_011514094.2:c.5397_5399del	XP_011512396.1:p.Ala1800del
XM_017009760.1:c.7983_7985del	XP_016865249.1:p.Ala2662del
XM_017009761.2:c.7983_7985del	XP_016865250.1:p.Ala2662del
XM_017009763.1:c.7179_7181del	XP_016865252.1:p.Ala2394del
XM_017009765.1:c.6984_6986del	XP_016865254.1:p.Ala2329del
XM_017009766.1:c.4815_4817del	XP_016865255.1:p.Ala1606del
XM_024446183.1:c.7983_7985del	XP_024301951.1:p.Ala2662del
XM_024446184.1:c.7854_7856del	XP_024301952.1:p.Ala2619del
XM_024446185.1:c.7500_7502del	XP_024301953.1:p.Ala2501del
XM_024446186.1:c.7179_7181del	XP_024301954.1:p.Ala2394del
XR_001742208.1:n.8341_8343del
XR_002956171.1:n.8287_8289del
XR_925644.2:n.8396_8398del
NM_001384732.1:c.8172_8174del MANE Select	NP_001371661.1:p.Ala2725del
NM_023073.4:c.8010_8012del	NP_075561.3:p.Ala2671del