Canonical Allele Identifier: CA2695231296

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598538_18598642del , CM000685.2:g.18598538_18598642del	GRCh38
NC_000023.10:g.18616658_18616762del , CM000685.1:g.18616658_18616762del	GRCh37
NC_000023.9:g.18526579_18526683del	NCBI36
NG_008475.1:g.177934_178038del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.902_977+29del
ENST00000635828.1:c.902_977+29del
ENST00000637881.1:c.902_977+29del
ENST00000674046.1:c.902_977+29del
ENST00000379989.6:c.902_977+29del
ENST00000379996.7:c.902_977+29del
ENST00000463994.4:c.902_977+29del
ENST00000623535.1:c.902_977+29del
NM_001037343.1:c.902_977+29del
NM_003159.2:c.902_977+29del
XM_011545569.1:c.902_926+80del
XM_011545570.1:c.770_845+29del
XR_950484.1:n.1154_1229+29del
NM_001323289.1:c.902_977+29del
NM_001323289.2:c.902_977+29del
NM_001037343.2:c.902_977+29del
NM_003159.3:c.902_977+29del