Canonical Allele Identifier: CA1539651418

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153956_37153958delinsGCT , CM000667.2:g.37153956_37153958delinsGCT	GRCh38
NC_000005.9:g.37154058_37154060delinsGCT , CM000667.1:g.37154058_37154060delinsGCT	GRCh37
NC_000005.8:g.37189815_37189817delinsGCT	NCBI36
NG_032772.1:g.100471_100473delinsAGC
NG_032772.2:g.100471_100473delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1154_1156delinsAGC
ENST00000651892.2:c.8155_8157delinsAGC MANE Select	ENSP00000498265.2:p.Ser2719=
ENST00000425232.6:c.7993_7995delinsAGC	ENSP00000389014.2:p.Ser2665=
ENST00000508244.5:c.7993_7995delinsAGC	ENSP00000421690.1:p.Ser2665=
ENST00000509849.5:c.5167_5169delinsAGC	ENSP00000426337.1:p.Ser1723=
ENST00000509957.5:n.397_399delinsAGC
ENST00000511210.5:n.446_448delinsAGC
ENST00000511824.2:c.1269_1271delinsAGC
ENST00000514429.5:c.5191_5193delinsAGC	ENSP00000424223.1:p.Ser1731=
ENST00000515380.1:n.407_409delinsAGC
NM_023073.3:c.7993_7995delinsAGC	NP_075561.3:p.Ser2665=
XM_005248345.2:c.8155_8157delinsAGC	XP_005248402.1:p.Ser2719=
XM_005248346.2:c.8152_8154delinsAGC	XP_005248403.1:p.Ser2718=
XM_005248347.2:c.8152_8154delinsAGC	XP_005248404.1:p.Ser2718=
XM_005248349.2:c.8044_8046delinsAGC	XP_005248406.1:p.Ser2682=
XM_005248350.2:c.8026_8028delinsAGC	XP_005248407.1:p.Ser2676=
XM_005248353.3:c.4798_4800delinsAGC	XP_005248410.1:p.Ser1600=
XM_006714489.2:c.8155_8157delinsAGC	XP_006714552.1:p.Ser2719=
XM_006714491.2:c.2728_2730delinsAGC	XP_006714554.1:p.Ser910=
XM_011514085.1:c.8155_8157delinsAGC	XP_011512387.1:p.Ser2719=
XM_011514086.1:c.8155_8157delinsAGC	XP_011512388.1:p.Ser2719=
XM_011514087.1:c.8101_8103delinsAGC	XP_011512389.1:p.Ser2701=
XM_011514088.1:c.8047_8049delinsAGC	XP_011512390.1:p.Ser2683=
XM_011514089.1:c.8155_8157delinsAGC	XP_011512391.1:p.Ser2719=
XM_011514090.1:c.7837_7839delinsAGC	XP_011512392.1:p.Ser2613=
XM_011514091.1:c.7483_7485delinsAGC	XP_011512393.1:p.Ser2495=
XM_011514092.1:c.8155_8157delinsAGC	XP_011512394.1:p.Ser2719=
XM_011514094.1:c.5380_5382delinsAGC	XP_011512396.1:p.Ser1794=
XR_427661.2:n.8330_8332delinsAGC
XR_925644.1:n.8330_8332delinsAGC
XM_005248345.4:c.8155_8157delinsAGC	XP_005248402.1:p.Ser2719=
XM_005248346.4:c.8152_8154delinsAGC	XP_005248403.1:p.Ser2718=
XM_005248347.4:c.8152_8154delinsAGC	XP_005248404.1:p.Ser2718=
XM_005248349.4:c.8044_8046delinsAGC	XP_005248406.1:p.Ser2682=
XM_005248350.4:c.8026_8028delinsAGC	XP_005248407.1:p.Ser2676=
XM_006714491.3:c.2728_2730delinsAGC	XP_006714554.1:p.Ser910=
XM_011514085.3:c.8155_8157delinsAGC	XP_011512387.1:p.Ser2719=
XM_011514086.3:c.8155_8157delinsAGC	XP_011512388.1:p.Ser2719=
XM_011514087.2:c.8101_8103delinsAGC	XP_011512389.1:p.Ser2701=
XM_011514088.2:c.8047_8049delinsAGC	XP_011512390.1:p.Ser2683=
XM_011514089.2:c.8155_8157delinsAGC	XP_011512391.1:p.Ser2719=
XM_011514090.3:c.7837_7839delinsAGC	XP_011512392.1:p.Ser2613=
XM_011514092.2:c.8155_8157delinsAGC	XP_011512394.1:p.Ser2719=
XM_011514094.2:c.5380_5382delinsAGC	XP_011512396.1:p.Ser1794=
XM_017009760.1:c.7966_7968delinsAGC	XP_016865249.1:p.Ser2656=
XM_017009761.2:c.7966_7968delinsAGC	XP_016865250.1:p.Ser2656=
XM_017009763.1:c.7162_7164delinsAGC	XP_016865252.1:p.Ser2388=
XM_017009765.1:c.6967_6969delinsAGC	XP_016865254.1:p.Ser2323=
XM_017009766.1:c.4798_4800delinsAGC	XP_016865255.1:p.Ser1600=
XM_024446183.1:c.7966_7968delinsAGC	XP_024301951.1:p.Ser2656=
XM_024446184.1:c.7837_7839delinsAGC	XP_024301952.1:p.Ser2613=
XM_024446185.1:c.7483_7485delinsAGC	XP_024301953.1:p.Ser2495=
XM_024446186.1:c.7162_7164delinsAGC	XP_024301954.1:p.Ser2388=
XR_001742208.1:n.8324_8326delinsAGC
XR_002956171.1:n.8270_8272delinsAGC
XR_925644.2:n.8379_8381delinsAGC
NM_001384732.1:c.8155_8157delinsAGC MANE Select	NP_001371661.1:p.Ser2719=
NM_023073.4:c.7993_7995delinsAGC	NP_075561.3:p.Ser2665=