Canonical Allele Identifier: CA2417977419

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613478_18613479delinsGA , CM000685.2:g.18613478_18613479delinsGA	GRCh38
NC_000023.10:g.18631598_18631599delinsGA , CM000685.1:g.18631598_18631599delinsGA	GRCh37
NC_000023.9:g.18541519_18541520delinsGA	NCBI36
NG_008475.1:g.192874_192875delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2276+203_2276+204delinsGA MANE Select	ENSP00000485244.1:n.2276+203_2276+204delinsGA
ENST00000635828.1:c.2276+203_2276+204delinsGA	ENSP00000490170.1:n.2276+203_2276+204delinsGA
ENST00000674046.1:c.2276+203_2276+204delinsGA	ENSP00000501174.1:n.2276+203_2276+204delinsGA
ENST00000379989.6:c.2276+203_2276+204delinsGA	ENSP00000369325.3:n.2276+203_2276+204delinsGA
ENST00000379996.7:c.2276+203_2276+204delinsGA	ENSP00000369332.3:n.2276+203_2276+204delinsGA
ENST00000463994.4:c.2276+203_2276+204delinsGA	ENSP00000485184.1:n.2276+203_2276+204delinsGA
ENST00000623535.1:c.2276+203_2276+204delinsGA	ENSP00000485244.1:n.2276+203_2276+204delinsGA
NM_001037343.1:c.2276+203_2276+204delinsGA	NP_001032420.1:n.2276+203_2276+204delinsGA
NM_003159.2:c.2276+203_2276+204delinsGA	NP_003150.1:n.2276+203_2276+204delinsGA
XM_011545569.1:c.2225+203_2225+204delinsGA	XP_011543871.1:n.2225+203_2225+204delinsGA
XM_011545570.1:c.2144+203_2144+204delinsGA	XP_011543872.1:n.2144+203_2144+204delinsGA
XR_950484.1:n.2528+203_2528+204delinsGA
NM_001323289.1:c.2276+203_2276+204delinsGA	NP_001310218.1:n.2276+203_2276+204delinsGA
NM_001323289.2:c.2276+203_2276+204delinsGA MANE Select	NP_001310218.1:n.2276+203_2276+204delinsGA
NM_001037343.2:c.2276+203_2276+204delinsGA	NP_001032420.1:n.2276+203_2276+204delinsGA
NM_003159.3:c.2276+203_2276+204delinsGA	NP_003150.1:n.2276+203_2276+204delinsGA