Canonical Allele Identifier: CA2580613553

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 1416173
• ClinVar RCV Id: RCV001935568
• dbSNP Id: rs2150623307

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153936_37153938del , CM000667.2:g.37153936_37153938del	GRCh38
NC_000005.9:g.37154038_37154040del , CM000667.1:g.37154038_37154040del	GRCh37
NC_000005.8:g.37189795_37189797del	NCBI36
NG_032772.1:g.100494_100496del
NG_032772.2:g.100494_100496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1177_1179del
ENST00000651892.2:c.8178_8180del MANE Select	ENSP00000498265.2:p.Glu2726del
ENST00000425232.6:c.8016_8018del	ENSP00000389014.2:p.Glu2672del
ENST00000508244.5:c.8016_8018del	ENSP00000421690.1:p.Glu2672del
ENST00000509849.5:c.5190_5192del	ENSP00000426337.1:p.Glu1730del
ENST00000509957.5:n.420_422del
ENST00000511210.5:n.469_471del
ENST00000511824.2:c.1292_1294del
ENST00000514429.5:c.5214_5216del	ENSP00000424223.1:p.Glu1738del
ENST00000515380.1:n.430_432del
NM_023073.3:c.8016_8018del	NP_075561.3:p.Glu2672del
XM_005248345.2:c.8178_8180del	XP_005248402.1:p.Glu2726del
XM_005248346.2:c.8175_8177del	XP_005248403.1:p.Glu2725del
XM_005248347.2:c.8175_8177del	XP_005248404.1:p.Glu2725del
XM_005248349.2:c.8067_8069del	XP_005248406.1:p.Glu2689del
XM_005248350.2:c.8049_8051del	XP_005248407.1:p.Glu2683del
XM_005248353.3:c.4821_4823del	XP_005248410.1:p.Glu1607del
XM_006714489.2:c.8178_8180del	XP_006714552.1:p.Glu2726del
XM_006714491.2:c.2751_2753del	XP_006714554.1:p.Glu917del
XM_011514085.1:c.8178_8180del	XP_011512387.1:p.Glu2726del
XM_011514086.1:c.8178_8180del	XP_011512388.1:p.Glu2726del
XM_011514087.1:c.8124_8126del	XP_011512389.1:p.Glu2708del
XM_011514088.1:c.8070_8072del	XP_011512390.1:p.Glu2690del
XM_011514089.1:c.8178_8180del	XP_011512391.1:p.Glu2726del
XM_011514090.1:c.7860_7862del	XP_011512392.1:p.Glu2620del
XM_011514091.1:c.7506_7508del	XP_011512393.1:p.Glu2502del
XM_011514092.1:c.8178_8180del	XP_011512394.1:p.Glu2726del
XM_011514094.1:c.5403_5405del	XP_011512396.1:p.Glu1801del
XR_427661.2:n.8353_8355del
XR_925644.1:n.8353_8355del
XM_005248345.4:c.8178_8180del	XP_005248402.1:p.Glu2726del
XM_005248346.4:c.8175_8177del	XP_005248403.1:p.Glu2725del
XM_005248347.4:c.8175_8177del	XP_005248404.1:p.Glu2725del
XM_005248349.4:c.8067_8069del	XP_005248406.1:p.Glu2689del
XM_005248350.4:c.8049_8051del	XP_005248407.1:p.Glu2683del
XM_006714491.3:c.2751_2753del	XP_006714554.1:p.Glu917del
XM_011514085.3:c.8178_8180del	XP_011512387.1:p.Glu2726del
XM_011514086.3:c.8178_8180del	XP_011512388.1:p.Glu2726del
XM_011514087.2:c.8124_8126del	XP_011512389.1:p.Glu2708del
XM_011514088.2:c.8070_8072del	XP_011512390.1:p.Glu2690del
XM_011514089.2:c.8178_8180del	XP_011512391.1:p.Glu2726del
XM_011514090.3:c.7860_7862del	XP_011512392.1:p.Glu2620del
XM_011514092.2:c.8178_8180del	XP_011512394.1:p.Glu2726del
XM_011514094.2:c.5403_5405del	XP_011512396.1:p.Glu1801del
XM_017009760.1:c.7989_7991del	XP_016865249.1:p.Glu2663del
XM_017009761.2:c.7989_7991del	XP_016865250.1:p.Glu2663del
XM_017009763.1:c.7185_7187del	XP_016865252.1:p.Glu2395del
XM_017009765.1:c.6990_6992del	XP_016865254.1:p.Glu2330del
XM_017009766.1:c.4821_4823del	XP_016865255.1:p.Glu1607del
XM_024446183.1:c.7989_7991del	XP_024301951.1:p.Glu2663del
XM_024446184.1:c.7860_7862del	XP_024301952.1:p.Glu2620del
XM_024446185.1:c.7506_7508del	XP_024301953.1:p.Glu2502del
XM_024446186.1:c.7185_7187del	XP_024301954.1:p.Glu2395del
XR_001742208.1:n.8347_8349del
XR_002956171.1:n.8293_8295del
XR_925644.2:n.8402_8404del
NM_001384732.1:c.8178_8180del MANE Select	NP_001371661.1:p.Glu2726del
NM_023073.4:c.8016_8018del	NP_075561.3:p.Glu2672del