Canonical Allele Identifier: CA2417979513

Gene: CDKL5

Linked Data

• dbSNP Id: rs1926846803

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18620139C>T , CM000685.2:g.18620139C>T	GRCh38
NC_000023.10:g.18638259C>T , CM000685.1:g.18638259C>T	GRCh37
NC_000023.9:g.18548180C>T	NCBI36
NG_008475.1:g.199535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2376+173C>T MANE Select	ENSP00000485244.1:n.2376+173C>T
ENST00000635828.1:c.2376+173C>T	ENSP00000490170.1:n.2376+173C>T
ENST00000674046.1:c.2376+173C>T	ENSP00000501174.1:n.2376+173C>T
ENST00000379989.6:c.2376+173C>T	ENSP00000369325.3:n.2376+173C>T
ENST00000379996.7:c.2376+173C>T	ENSP00000369332.3:n.2376+173C>T
ENST00000623535.1:c.2376+173C>T	ENSP00000485244.1:n.2376+173C>T
NM_001037343.1:c.2376+173C>T	NP_001032420.1:n.2376+173C>T
NM_003159.2:c.2376+173C>T	NP_003150.1:n.2376+173C>T
XM_011545569.1:c.2325+173C>T	XP_011543871.1:n.2325+173C>T
XM_011545570.1:c.2244+173C>T	XP_011543872.1:n.2244+173C>T
XR_950484.1:n.2628+173C>T
NM_001323289.1:c.2376+173C>T	NP_001310218.1:n.2376+173C>T
NM_001323289.2:c.2376+173C>T MANE Select	NP_001310218.1:n.2376+173C>T
NM_001037343.2:c.2376+173C>T	NP_001032420.1:n.2376+173C>T
NM_003159.3:c.2376+173C>T	NP_003150.1:n.2376+173C>T