Canonical Allele Identifier: CA2693223161

Gene: CDKL5

Linked Data

• gnomAD v4: X-18613305-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613311_18613312del , CM000685.2:g.18613311_18613312del	GRCh38
NC_000023.10:g.18631431_18631432del , CM000685.1:g.18631431_18631432del	GRCh37
NC_000023.9:g.18541352_18541353del	NCBI36
NG_008475.1:g.192707_192708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2276+36_2276+37del MANE Select	ENSP00000485244.1:n.2276+36_2276+37del
ENST00000635828.1:c.2276+36_2276+37del	ENSP00000490170.1:n.2276+36_2276+37del
ENST00000674046.1:c.2276+36_2276+37del	ENSP00000501174.1:n.2276+36_2276+37del
ENST00000379989.6:c.2276+36_2276+37del	ENSP00000369325.3:n.2276+36_2276+37del
ENST00000379996.7:c.2276+36_2276+37del	ENSP00000369332.3:n.2276+36_2276+37del
ENST00000463994.4:c.2276+36_2276+37del	ENSP00000485184.1:n.2276+36_2276+37del
ENST00000623535.1:c.2276+36_2276+37del	ENSP00000485244.1:n.2276+36_2276+37del
NM_001037343.1:c.2276+36_2276+37del	NP_001032420.1:n.2276+36_2276+37del
NM_003159.2:c.2276+36_2276+37del	NP_003150.1:n.2276+36_2276+37del
XM_011545569.1:c.2225+36_2225+37del	XP_011543871.1:n.2225+36_2225+37del
XM_011545570.1:c.2144+36_2144+37del	XP_011543872.1:n.2144+36_2144+37del
XR_950484.1:n.2528+36_2528+37del
NM_001323289.1:c.2276+36_2276+37del	NP_001310218.1:n.2276+36_2276+37del
NM_001323289.2:c.2276+36_2276+37del MANE Select	NP_001310218.1:n.2276+36_2276+37del
NM_001037343.2:c.2276+36_2276+37del	NP_001032420.1:n.2276+36_2276+37del
NM_003159.3:c.2276+36_2276+37del	NP_003150.1:n.2276+36_2276+37del