Canonical Allele Identifier: CA2518127976

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18579986_18579987insTC , CM000685.2:g.18579986_18579987insTC	GRCh38
NC_000023.10:g.18598106_18598107insTC , CM000685.1:g.18598106_18598107insTC	GRCh37
NC_000023.9:g.18508027_18508028insTC	NCBI36
NG_008475.1:g.159382_159383insTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.403+18_403+19insTC MANE Select	ENSP00000485244.1:n.403+18_403+19insTC
ENST00000635828.1:c.403+18_403+19insTC	ENSP00000490170.1:n.403+18_403+19insTC
ENST00000637881.1:c.403+18_403+19insTC	ENSP00000489879.1:n.403+18_403+19insTC
ENST00000674046.1:c.403+18_403+19insTC	ENSP00000501174.1:n.403+18_403+19insTC
ENST00000379989.6:c.403+18_403+19insTC	ENSP00000369325.3:n.403+18_403+19insTC
ENST00000379996.7:c.403+18_403+19insTC	ENSP00000369332.3:n.403+18_403+19insTC
ENST00000463994.4:c.403+18_403+19insTC	ENSP00000485184.1:n.403+18_403+19insTC
ENST00000623535.1:c.403+18_403+19insTC	ENSP00000485244.1:n.403+18_403+19insTC
NM_001037343.1:c.403+18_403+19insTC	NP_001032420.1:n.403+18_403+19insTC
NM_003159.2:c.403+18_403+19insTC	NP_003150.1:n.403+18_403+19insTC
XM_011545569.1:c.403+18_403+19insTC	XP_011543871.1:n.403+18_403+19insTC
XM_011545570.1:c.271+18_271+19insTC	XP_011543872.1:n.271+18_271+19insTC
XR_950484.1:n.655+18_655+19insTC
NM_001323289.1:c.403+18_403+19insTC	NP_001310218.1:n.403+18_403+19insTC
NM_001323289.2:c.403+18_403+19insTC MANE Select	NP_001310218.1:n.403+18_403+19insTC
NM_001037343.2:c.403+18_403+19insTC	NP_001032420.1:n.403+18_403+19insTC
NM_003159.3:c.403+18_403+19insTC	NP_003150.1:n.403+18_403+19insTC