Canonical Allele Identifier: CA2417977366

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613288_18613289delinsGT , CM000685.2:g.18613288_18613289delinsGT	GRCh38
NC_000023.10:g.18631408_18631409delinsGT , CM000685.1:g.18631408_18631409delinsGT	GRCh37
NC_000023.9:g.18541329_18541330delinsGT	NCBI36
NG_008475.1:g.192684_192685delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2276+13_2276+14delinsGT MANE Select	ENSP00000485244.1:n.2276+13_2276+14delinsGT
ENST00000635828.1:c.2276+13_2276+14delinsGT	ENSP00000490170.1:n.2276+13_2276+14delinsGT
ENST00000674046.1:c.2276+13_2276+14delinsGT	ENSP00000501174.1:n.2276+13_2276+14delinsGT
ENST00000379989.6:c.2276+13_2276+14delinsGT	ENSP00000369325.3:n.2276+13_2276+14delinsGT
ENST00000379996.7:c.2276+13_2276+14delinsGT	ENSP00000369332.3:n.2276+13_2276+14delinsGT
ENST00000463994.4:c.2276+13_2276+14delinsGT	ENSP00000485184.1:n.2276+13_2276+14delinsGT
ENST00000623535.1:c.2276+13_2276+14delinsGT	ENSP00000485244.1:n.2276+13_2276+14delinsGT
NM_001037343.1:c.2276+13_2276+14delinsGT	NP_001032420.1:n.2276+13_2276+14delinsGT
NM_003159.2:c.2276+13_2276+14delinsGT	NP_003150.1:n.2276+13_2276+14delinsGT
XM_011545569.1:c.2225+13_2225+14delinsGT	XP_011543871.1:n.2225+13_2225+14delinsGT
XM_011545570.1:c.2144+13_2144+14delinsGT	XP_011543872.1:n.2144+13_2144+14delinsGT
XR_950484.1:n.2528+13_2528+14delinsGT
NM_001323289.1:c.2276+13_2276+14delinsGT	NP_001310218.1:n.2276+13_2276+14delinsGT
NM_001323289.2:c.2276+13_2276+14delinsGT MANE Select	NP_001310218.1:n.2276+13_2276+14delinsGT
NM_001037343.2:c.2276+13_2276+14delinsGT	NP_001032420.1:n.2276+13_2276+14delinsGT
NM_003159.3:c.2276+13_2276+14delinsGT	NP_003150.1:n.2276+13_2276+14delinsGT