Canonical Allele Identifier: CA2417977416

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613475_18613476delinsAG , CM000685.2:g.18613475_18613476delinsAG	GRCh38
NC_000023.10:g.18631595_18631596delinsAG , CM000685.1:g.18631595_18631596delinsAG	GRCh37
NC_000023.9:g.18541516_18541517delinsAG	NCBI36
NG_008475.1:g.192871_192872delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2276+200_2276+201delinsAG MANE Select	ENSP00000485244.1:n.2276+200_2276+201delinsAG
ENST00000635828.1:c.2276+200_2276+201delinsAG	ENSP00000490170.1:n.2276+200_2276+201delinsAG
ENST00000674046.1:c.2276+200_2276+201delinsAG	ENSP00000501174.1:n.2276+200_2276+201delinsAG
ENST00000379989.6:c.2276+200_2276+201delinsAG	ENSP00000369325.3:n.2276+200_2276+201delinsAG
ENST00000379996.7:c.2276+200_2276+201delinsAG	ENSP00000369332.3:n.2276+200_2276+201delinsAG
ENST00000463994.4:c.2276+200_2276+201delinsAG	ENSP00000485184.1:n.2276+200_2276+201delinsAG
ENST00000623535.1:c.2276+200_2276+201delinsAG	ENSP00000485244.1:n.2276+200_2276+201delinsAG
NM_001037343.1:c.2276+200_2276+201delinsAG	NP_001032420.1:n.2276+200_2276+201delinsAG
NM_003159.2:c.2276+200_2276+201delinsAG	NP_003150.1:n.2276+200_2276+201delinsAG
XM_011545569.1:c.2225+200_2225+201delinsAG	XP_011543871.1:n.2225+200_2225+201delinsAG
XM_011545570.1:c.2144+200_2144+201delinsAG	XP_011543872.1:n.2144+200_2144+201delinsAG
XR_950484.1:n.2528+200_2528+201delinsAG
NM_001323289.1:c.2276+200_2276+201delinsAG	NP_001310218.1:n.2276+200_2276+201delinsAG
NM_001323289.2:c.2276+200_2276+201delinsAG MANE Select	NP_001310218.1:n.2276+200_2276+201delinsAG
NM_001037343.2:c.2276+200_2276+201delinsAG	NP_001032420.1:n.2276+200_2276+201delinsAG
NM_003159.3:c.2276+200_2276+201delinsAG	NP_003150.1:n.2276+200_2276+201delinsAG