Canonical Allele Identifier: CA2819901383

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613355_18613366del , CM000685.2:g.18613355_18613366del	GRCh38
NC_000023.10:g.18631475_18631486del , CM000685.1:g.18631475_18631486del	GRCh37
NC_000023.9:g.18541396_18541407del	NCBI36
NG_008475.1:g.192751_192762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2276+80_2276+91del MANE Select	ENSP00000485244.1:n.2276+80_2276+91del
ENST00000635828.1:c.2276+80_2276+91del	ENSP00000490170.1:n.2276+80_2276+91del
ENST00000674046.1:c.2276+80_2276+91del	ENSP00000501174.1:n.2276+80_2276+91del
ENST00000379989.6:c.2276+80_2276+91del	ENSP00000369325.3:n.2276+80_2276+91del
ENST00000379996.7:c.2276+80_2276+91del	ENSP00000369332.3:n.2276+80_2276+91del
ENST00000463994.4:c.2276+80_2276+91del	ENSP00000485184.1:n.2276+80_2276+91del
ENST00000623535.1:c.2276+80_2276+91del	ENSP00000485244.1:n.2276+80_2276+91del
NM_001037343.1:c.2276+80_2276+91del	NP_001032420.1:n.2276+80_2276+91del
NM_003159.2:c.2276+80_2276+91del	NP_003150.1:n.2276+80_2276+91del
XM_011545569.1:c.2225+80_2225+91del	XP_011543871.1:n.2225+80_2225+91del
XM_011545570.1:c.2144+80_2144+91del	XP_011543872.1:n.2144+80_2144+91del
XR_950484.1:n.2528+80_2528+91del
NM_001323289.1:c.2276+80_2276+91del	NP_001310218.1:n.2276+80_2276+91del
NM_001323289.2:c.2276+80_2276+91del MANE Select	NP_001310218.1:n.2276+80_2276+91del
NM_001037343.2:c.2276+80_2276+91del	NP_001032420.1:n.2276+80_2276+91del
NM_003159.3:c.2276+80_2276+91del	NP_003150.1:n.2276+80_2276+91del