Canonical Allele Identifier: CA2527219262

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153953_37153954insTCAAAATAATGA , CM000667.2:g.37153953_37153954insTCAAAATAATGA	GRCh38
NC_000005.9:g.37154055_37154056insTCAAAATAATGA , CM000667.1:g.37154055_37154056insTCAAAATAATGA	GRCh37
NC_000005.8:g.37189812_37189813insTCAAAATAATGA	NCBI36
NG_032772.1:g.100475_100476insTCATTATTTTGA
NG_032772.2:g.100475_100476insTCATTATTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1158_1159insTCATTATTTTGA
ENST00000651892.2:c.8159_8160insTCATTATTTTGA MANE Select	ENSP00000498265.2:p.Thr2720_Lys2721insHisTyrPheGlu
ENST00000425232.6:c.7997_7998insTCATTATTTTGA	ENSP00000389014.2:p.Thr2666_Lys2667insHisTyrPheGlu
ENST00000508244.5:c.7997_7998insTCATTATTTTGA	ENSP00000421690.1:p.Thr2666_Lys2667insHisTyrPheGlu
ENST00000509849.5:c.5171_5172insTCATTATTTTGA	ENSP00000426337.1:p.Thr1724_Lys1725insHisTyrPheGlu
ENST00000509957.5:n.401_402insTCATTATTTTGA
ENST00000511210.5:n.450_451insTCATTATTTTGA
ENST00000511824.2:c.1273_1274insTCATTATTTTGA
ENST00000514429.5:c.5195_5196insTCATTATTTTGA	ENSP00000424223.1:p.Thr1732_Lys1733insHisTyrPheGlu
ENST00000515380.1:n.411_412insTCATTATTTTGA
NM_023073.3:c.7997_7998insTCATTATTTTGA	NP_075561.3:p.Thr2666_Lys2667insHisTyrPheGlu
XM_005248345.2:c.8159_8160insTCATTATTTTGA	XP_005248402.1:p.Thr2720_Lys2721insHisTyrPheGlu
XM_005248346.2:c.8156_8157insTCATTATTTTGA	XP_005248403.1:p.Thr2719_Lys2720insHisTyrPheGlu
XM_005248347.2:c.8156_8157insTCATTATTTTGA	XP_005248404.1:p.Thr2719_Lys2720insHisTyrPheGlu
XM_005248349.2:c.8048_8049insTCATTATTTTGA	XP_005248406.1:p.Thr2683_Lys2684insHisTyrPheGlu
XM_005248350.2:c.8030_8031insTCATTATTTTGA	XP_005248407.1:p.Thr2677_Lys2678insHisTyrPheGlu
XM_005248353.3:c.4802_4803insTCATTATTTTGA	XP_005248410.1:p.Thr1601_Lys1602insHisTyrPheGlu
XM_006714489.2:c.8159_8160insTCATTATTTTGA	XP_006714552.1:p.Thr2720_Lys2721insHisTyrPheGlu
XM_006714491.2:c.2732_2733insTCATTATTTTGA	XP_006714554.1:p.Thr911_Lys912insHisTyrPheGlu
XM_011514085.1:c.8159_8160insTCATTATTTTGA	XP_011512387.1:p.Thr2720_Lys2721insHisTyrPheGlu
XM_011514086.1:c.8159_8160insTCATTATTTTGA	XP_011512388.1:p.Thr2720_Lys2721insHisTyrPheGlu
XM_011514087.1:c.8105_8106insTCATTATTTTGA	XP_011512389.1:p.Thr2702_Lys2703insHisTyrPheGlu
XM_011514088.1:c.8051_8052insTCATTATTTTGA	XP_011512390.1:p.Thr2684_Lys2685insHisTyrPheGlu
XM_011514089.1:c.8159_8160insTCATTATTTTGA	XP_011512391.1:p.Thr2720_Lys2721insHisTyrPheGlu
XM_011514090.1:c.7841_7842insTCATTATTTTGA	XP_011512392.1:p.Thr2614_Lys2615insHisTyrPheGlu
XM_011514091.1:c.7487_7488insTCATTATTTTGA	XP_011512393.1:p.Thr2496_Lys2497insHisTyrPheGlu
XM_011514092.1:c.8159_8160insTCATTATTTTGA	XP_011512394.1:p.Thr2720_Lys2721insHisTyrPheGlu
XM_011514094.1:c.5384_5385insTCATTATTTTGA	XP_011512396.1:p.Thr1795_Lys1796insHisTyrPheGlu
XR_427661.2:n.8334_8335insTCATTATTTTGA
XR_925644.1:n.8334_8335insTCATTATTTTGA
XM_005248345.4:c.8159_8160insTCATTATTTTGA	XP_005248402.1:p.Thr2720_Lys2721insHisTyrPheGlu
XM_005248346.4:c.8156_8157insTCATTATTTTGA	XP_005248403.1:p.Thr2719_Lys2720insHisTyrPheGlu
XM_005248347.4:c.8156_8157insTCATTATTTTGA	XP_005248404.1:p.Thr2719_Lys2720insHisTyrPheGlu
XM_005248349.4:c.8048_8049insTCATTATTTTGA	XP_005248406.1:p.Thr2683_Lys2684insHisTyrPheGlu
XM_005248350.4:c.8030_8031insTCATTATTTTGA	XP_005248407.1:p.Thr2677_Lys2678insHisTyrPheGlu
XM_006714491.3:c.2732_2733insTCATTATTTTGA	XP_006714554.1:p.Thr911_Lys912insHisTyrPheGlu
XM_011514085.3:c.8159_8160insTCATTATTTTGA	XP_011512387.1:p.Thr2720_Lys2721insHisTyrPheGlu
XM_011514086.3:c.8159_8160insTCATTATTTTGA	XP_011512388.1:p.Thr2720_Lys2721insHisTyrPheGlu
XM_011514087.2:c.8105_8106insTCATTATTTTGA	XP_011512389.1:p.Thr2702_Lys2703insHisTyrPheGlu
XM_011514088.2:c.8051_8052insTCATTATTTTGA	XP_011512390.1:p.Thr2684_Lys2685insHisTyrPheGlu
XM_011514089.2:c.8159_8160insTCATTATTTTGA	XP_011512391.1:p.Thr2720_Lys2721insHisTyrPheGlu
XM_011514090.3:c.7841_7842insTCATTATTTTGA	XP_011512392.1:p.Thr2614_Lys2615insHisTyrPheGlu
XM_011514092.2:c.8159_8160insTCATTATTTTGA	XP_011512394.1:p.Thr2720_Lys2721insHisTyrPheGlu
XM_011514094.2:c.5384_5385insTCATTATTTTGA	XP_011512396.1:p.Thr1795_Lys1796insHisTyrPheGlu
XM_017009760.1:c.7970_7971insTCATTATTTTGA	XP_016865249.1:p.Thr2657_Lys2658insHisTyrPheGlu
XM_017009761.2:c.7970_7971insTCATTATTTTGA	XP_016865250.1:p.Thr2657_Lys2658insHisTyrPheGlu
XM_017009763.1:c.7166_7167insTCATTATTTTGA	XP_016865252.1:p.Thr2389_Lys2390insHisTyrPheGlu
XM_017009765.1:c.6971_6972insTCATTATTTTGA	XP_016865254.1:p.Thr2324_Lys2325insHisTyrPheGlu
XM_017009766.1:c.4802_4803insTCATTATTTTGA	XP_016865255.1:p.Thr1601_Lys1602insHisTyrPheGlu
XM_024446183.1:c.7970_7971insTCATTATTTTGA	XP_024301951.1:p.Thr2657_Lys2658insHisTyrPheGlu
XM_024446184.1:c.7841_7842insTCATTATTTTGA	XP_024301952.1:p.Thr2614_Lys2615insHisTyrPheGlu
XM_024446185.1:c.7487_7488insTCATTATTTTGA	XP_024301953.1:p.Thr2496_Lys2497insHisTyrPheGlu
XM_024446186.1:c.7166_7167insTCATTATTTTGA	XP_024301954.1:p.Thr2389_Lys2390insHisTyrPheGlu
XR_001742208.1:n.8328_8329insTCATTATTTTGA
XR_002956171.1:n.8274_8275insTCATTATTTTGA
XR_925644.2:n.8383_8384insTCATTATTTTGA
NM_001384732.1:c.8159_8160insTCATTATTTTGA MANE Select	NP_001371661.1:p.Thr2720_Lys2721insHisTyrPheGlu
NM_023073.4:c.7997_7998insTCATTATTTTGA	NP_075561.3:p.Thr2666_Lys2667insHisTyrPheGlu