Canonical Allele Identifier: CA2673579774

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37122434-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122438_37122439del , CM000667.2:g.37122438_37122439del	GRCh38
NC_000005.9:g.37122540_37122541del , CM000667.1:g.37122540_37122541del	GRCh37
NC_000005.8:g.37158297_37158298del	NCBI36
NG_032772.1:g.131993_131994del
NG_032772.2:g.131993_131994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.9011_9012del MANE Select	ENSP00000498265.2:p.Lys3004ArgfsTer7
ENST00000676160.1:n.872_873del
ENST00000425232.6:c.8849_8850del	ENSP00000389014.2:p.Lys2950ArgfsTer7
ENST00000508244.5:c.8849_8850del	ENSP00000421690.1:p.Lys2950ArgfsTer7
ENST00000509849.5:c.6023_6024del	ENSP00000426337.1:n.6023_6024del
ENST00000512288.5:n.342-652_342-651del
ENST00000514429.5:c.6047_6048del	ENSP00000424223.1:p.Lys2016ArgfsTer7
NM_023073.3:c.8849_8850del	NP_075561.3:p.Lys2950ArgfsTer7
XM_005248345.2:c.9011_9012del	XP_005248402.1:p.Lys3004ArgfsTer7
XM_005248346.2:c.9008_9009del	XP_005248403.1:p.Lys3003ArgfsTer7
XM_005248347.2:c.9008_9009del	XP_005248404.1:p.Lys3003ArgfsTer7
XM_005248349.2:c.8900_8901del	XP_005248406.1:p.Lys2967ArgfsTer7
XM_005248350.2:c.8882_8883del	XP_005248407.1:p.Lys2961ArgfsTer7
XM_005248353.3:c.5654_5655del	XP_005248410.1:p.Lys1885ArgfsTer7
XM_006714489.2:c.9011_9012del	XP_006714552.1:p.Lys3004ArgfsTer7
XM_006714491.2:c.3584_3585del	XP_006714554.1:p.Lys1195ArgfsTer7
XM_011514085.1:c.9011_9012del	XP_011512387.1:p.Lys3004ArgfsTer7
XM_011514086.1:c.9011_9012del	XP_011512388.1:p.Lys3004ArgfsTer7
XM_011514087.1:c.8957_8958del	XP_011512389.1:p.Lys2986ArgfsTer7
XM_011514088.1:c.8903_8904del	XP_011512390.1:p.Lys2968ArgfsTer7
XM_011514089.1:c.9011_9012del	XP_011512391.1:p.Lys3004ArgfsTer7
XM_011514090.1:c.8693_8694del	XP_011512392.1:p.Lys2898ArgfsTer7
XM_011514091.1:c.8339_8340del	XP_011512393.1:p.Lys2780ArgfsTer7
XM_011514092.1:c.9011_9012del	XP_011512394.1:p.Lys3004ArgfsTer7
XM_011514094.1:c.6236_6237del	XP_011512396.1:p.Lys2079ArgfsTer7
XR_427661.2:n.9186_9187del
XR_925644.1:n.9186_9187del
XM_005248345.4:c.9011_9012del	XP_005248402.1:p.Lys3004ArgfsTer7
XM_005248346.4:c.9008_9009del	XP_005248403.1:p.Lys3003ArgfsTer7
XM_005248347.4:c.9008_9009del	XP_005248404.1:p.Lys3003ArgfsTer7
XM_005248349.4:c.8900_8901del	XP_005248406.1:p.Lys2967ArgfsTer7
XM_005248350.4:c.8882_8883del	XP_005248407.1:p.Lys2961ArgfsTer7
XM_006714491.3:c.3584_3585del	XP_006714554.1:p.Lys1195ArgfsTer7
XM_011514085.3:c.9011_9012del	XP_011512387.1:p.Lys3004ArgfsTer7
XM_011514086.3:c.9011_9012del	XP_011512388.1:p.Lys3004ArgfsTer7
XM_011514087.2:c.8957_8958del	XP_011512389.1:p.Lys2986ArgfsTer7
XM_011514088.2:c.8903_8904del	XP_011512390.1:p.Lys2968ArgfsTer7
XM_011514089.2:c.9011_9012del	XP_011512391.1:p.Lys3004ArgfsTer7
XM_011514090.3:c.8693_8694del	XP_011512392.1:p.Lys2898ArgfsTer7
XM_011514092.2:c.9011_9012del	XP_011512394.1:p.Lys3004ArgfsTer7
XM_011514094.2:c.6236_6237del	XP_011512396.1:p.Lys2079ArgfsTer7
XM_017009760.1:c.8822_8823del	XP_016865249.1:p.Lys2941ArgfsTer7
XM_017009761.2:c.8822_8823del	XP_016865250.1:p.Lys2941ArgfsTer7
XM_017009763.1:c.8018_8019del	XP_016865252.1:p.Lys2673ArgfsTer7
XM_017009765.1:c.7823_7824del	XP_016865254.1:p.Lys2608ArgfsTer7
XM_017009766.1:c.5654_5655del	XP_016865255.1:p.Lys1885ArgfsTer7
XM_024446183.1:c.8822_8823del	XP_024301951.1:p.Lys2941ArgfsTer7
XM_024446184.1:c.8693_8694del	XP_024301952.1:p.Lys2898ArgfsTer7
XM_024446185.1:c.8339_8340del	XP_024301953.1:p.Lys2780ArgfsTer7
XM_024446186.1:c.8018_8019del	XP_024301954.1:p.Lys2673ArgfsTer7
XR_925644.2:n.9235_9236del
NM_001384732.1:c.9011_9012del MANE Select	NP_001371661.1:p.Lys3004ArgfsTer7
NM_023073.4:c.8849_8850del	NP_075561.3:p.Lys2950ArgfsTer7