Canonical Allele Identifier: CA2417979451

Gene: CDKL5

Linked Data

• dbSNP Id: rs1926840836

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619996_18619998del , CM000685.2:g.18619996_18619998del	GRCh38
NC_000023.10:g.18638116_18638118del , CM000685.1:g.18638116_18638118del	GRCh37
NC_000023.9:g.18548037_18548039del	NCBI36
NG_008475.1:g.199392_199394del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.2376+30_2376+32del MANE Select	ENSP00000485244.1:n.2376+30_2376+32del
ENST00000635828.1:c.2376+30_2376+32del	ENSP00000490170.1:n.2376+30_2376+32del
ENST00000674046.1:c.2376+30_2376+32del	ENSP00000501174.1:n.2376+30_2376+32del
ENST00000379989.6:c.2376+30_2376+32del	ENSP00000369325.3:n.2376+30_2376+32del
ENST00000379996.7:c.2376+30_2376+32del	ENSP00000369332.3:n.2376+30_2376+32del
ENST00000623535.1:c.2376+30_2376+32del	ENSP00000485244.1:n.2376+30_2376+32del
NM_001037343.1:c.2376+30_2376+32del	NP_001032420.1:n.2376+30_2376+32del
NM_003159.2:c.2376+30_2376+32del	NP_003150.1:n.2376+30_2376+32del
XM_011545569.1:c.2325+30_2325+32del	XP_011543871.1:n.2325+30_2325+32del
XM_011545570.1:c.2244+30_2244+32del	XP_011543872.1:n.2244+30_2244+32del
XR_950484.1:n.2628+30_2628+32del
NM_001323289.1:c.2376+30_2376+32del	NP_001310218.1:n.2376+30_2376+32del
NM_001323289.2:c.2376+30_2376+32del MANE Select	NP_001310218.1:n.2376+30_2376+32del
NM_001037343.2:c.2376+30_2376+32del	NP_001032420.1:n.2376+30_2376+32del
NM_003159.3:c.2376+30_2376+32del	NP_003150.1:n.2376+30_2376+32del