Canonical Allele Identifier: CA2417977417

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613475_18613478delinsAGGG , CM000685.2:g.18613475_18613478delinsAGGG	GRCh38
NC_000023.10:g.18631595_18631598delinsAGGG , CM000685.1:g.18631595_18631598delinsAGGG	GRCh37
NC_000023.9:g.18541516_18541519delinsAGGG	NCBI36
NG_008475.1:g.192871_192874delinsAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2276+200_2276+203delinsAGGG MANE Select	ENSP00000485244.1:n.2276+200_2276+203delinsAGGG
ENST00000635828.1:c.2276+200_2276+203delinsAGGG	ENSP00000490170.1:n.2276+200_2276+203delinsAGGG
ENST00000674046.1:c.2276+200_2276+203delinsAGGG	ENSP00000501174.1:n.2276+200_2276+203delinsAGGG
ENST00000379989.6:c.2276+200_2276+203delinsAGGG	ENSP00000369325.3:n.2276+200_2276+203delinsAGGG
ENST00000379996.7:c.2276+200_2276+203delinsAGGG	ENSP00000369332.3:n.2276+200_2276+203delinsAGGG
ENST00000463994.4:c.2276+200_2276+203delinsAGGG	ENSP00000485184.1:n.2276+200_2276+203delinsAGGG
ENST00000623535.1:c.2276+200_2276+203delinsAGGG	ENSP00000485244.1:n.2276+200_2276+203delinsAGGG
NM_001037343.1:c.2276+200_2276+203delinsAGGG	NP_001032420.1:n.2276+200_2276+203delinsAGGG
NM_003159.2:c.2276+200_2276+203delinsAGGG	NP_003150.1:n.2276+200_2276+203delinsAGGG
XM_011545569.1:c.2225+200_2225+203delinsAGGG	XP_011543871.1:n.2225+200_2225+203delinsAGGG
XM_011545570.1:c.2144+200_2144+203delinsAGGG	XP_011543872.1:n.2144+200_2144+203delinsAGGG
XR_950484.1:n.2528+200_2528+203delinsAGGG
NM_001323289.1:c.2276+200_2276+203delinsAGGG	NP_001310218.1:n.2276+200_2276+203delinsAGGG
NM_001323289.2:c.2276+200_2276+203delinsAGGG MANE Select	NP_001310218.1:n.2276+200_2276+203delinsAGGG
NM_001037343.2:c.2276+200_2276+203delinsAGGG	NP_001032420.1:n.2276+200_2276+203delinsAGGG
NM_003159.3:c.2276+200_2276+203delinsAGGG	NP_003150.1:n.2276+200_2276+203delinsAGGG