Canonical Allele Identifier: CA645613868

Gene: CDKL5

Linked Data

• COSMIC: COSM5801163

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18575356_18575364del , CM000685.2:g.18575356_18575364del	GRCh38
NC_000023.10:g.18593476_18593484del , CM000685.1:g.18593476_18593484del	GRCh37
NC_000023.9:g.18503397_18503405del	NCBI36
NG_008475.1:g.154752_154760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.148_156del
ENST00000635828.1:c.148_156del
ENST00000637881.1:c.148_156del
ENST00000674046.1:c.148_156del
ENST00000379989.6:c.148_156del
ENST00000379996.7:c.148_156del
ENST00000463994.4:c.148_156del
ENST00000623364.3:c.148_156del
ENST00000623535.1:c.148_156del
ENST00000624700.3:c.148_156del
NM_001037343.1:c.148_156del
NM_003159.2:c.148_156del
XM_011545569.1:c.148_156del
XM_011545570.1:c.16_24del
XR_950484.1:n.400_408del
NM_001323289.1:c.148_156del
NM_001323289.2:c.148_156del
NM_001037343.2:c.148_156del
NM_003159.3:c.148_156del