Canonical Allele Identifier: CA2417977402

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613454_18613462delinsATTTAGATT , CM000685.2:g.18613454_18613462delinsATTTAGATT	GRCh38
NC_000023.10:g.18631574_18631582delinsATTTAGATT , CM000685.1:g.18631574_18631582delinsATTTAGATT	GRCh37
NC_000023.9:g.18541495_18541503delinsATTTAGATT	NCBI36
NG_008475.1:g.192850_192858delinsATTTAGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2276+179_2276+187delinsATTTAGATT MANE Select	ENSP00000485244.1:n.2276+179_2276+187delinsATTTAGATT
ENST00000635828.1:c.2276+179_2276+187delinsATTTAGATT	ENSP00000490170.1:n.2276+179_2276+187delinsATTTAGATT
ENST00000674046.1:c.2276+179_2276+187delinsATTTAGATT	ENSP00000501174.1:n.2276+179_2276+187delinsATTTAGATT
ENST00000379989.6:c.2276+179_2276+187delinsATTTAGATT	ENSP00000369325.3:n.2276+179_2276+187delinsATTTAGATT
ENST00000379996.7:c.2276+179_2276+187delinsATTTAGATT	ENSP00000369332.3:n.2276+179_2276+187delinsATTTAGATT
ENST00000463994.4:c.2276+179_2276+187delinsATTTAGATT	ENSP00000485184.1:n.2276+179_2276+187delinsATTTAGATT
ENST00000623535.1:c.2276+179_2276+187delinsATTTAGATT	ENSP00000485244.1:n.2276+179_2276+187delinsATTTAGATT
NM_001037343.1:c.2276+179_2276+187delinsATTTAGATT	NP_001032420.1:n.2276+179_2276+187delinsATTTAGATT
NM_003159.2:c.2276+179_2276+187delinsATTTAGATT	NP_003150.1:n.2276+179_2276+187delinsATTTAGATT
XM_011545569.1:c.2225+179_2225+187delinsATTTAGATT	XP_011543871.1:n.2225+179_2225+187delinsATTTAGATT
XM_011545570.1:c.2144+179_2144+187delinsATTTAGATT	XP_011543872.1:n.2144+179_2144+187delinsATTTAGATT
XR_950484.1:n.2528+179_2528+187delinsATTTAGATT
NM_001323289.1:c.2276+179_2276+187delinsATTTAGATT	NP_001310218.1:n.2276+179_2276+187delinsATTTAGATT
NM_001323289.2:c.2276+179_2276+187delinsATTTAGATT MANE Select	NP_001310218.1:n.2276+179_2276+187delinsATTTAGATT
NM_001037343.2:c.2276+179_2276+187delinsATTTAGATT	NP_001032420.1:n.2276+179_2276+187delinsATTTAGATT
NM_003159.3:c.2276+179_2276+187delinsATTTAGATT	NP_003150.1:n.2276+179_2276+187delinsATTTAGATT