Canonical Allele Identifier: CA645620506

Gene: CDKL5

Linked Data

• COSMIC: COSM4671216

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619944dup , CM000685.2:g.18619944dup	GRCh38
NC_000023.10:g.18638064dup , CM000685.1:g.18638064dup	GRCh37
NC_000023.9:g.18547985dup	NCBI36
NG_008475.1:g.199340dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2354dup MANE Select	ENSP00000485244.1:p.Lys786GlufsTer15
ENST00000635828.1:c.2354dup	ENSP00000490170.1:p.Lys786GlufsTer15
ENST00000674046.1:c.2354dup	ENSP00000501174.1:p.Lys786GlufsTer27
ENST00000379989.6:c.2354dup	ENSP00000369325.3:p.Lys786GlufsTer15
ENST00000379996.7:c.2354dup	ENSP00000369332.3:p.Lys786GlufsTer15
ENST00000623535.1:c.2354dup	ENSP00000485244.1:p.Lys786GlufsTer15
NM_001037343.1:c.2354dup	NP_001032420.1:p.Lys786GlufsTer15
NM_003159.2:c.2354dup	NP_003150.1:p.Lys786GlufsTer15
XM_011545569.1:c.2303dup	XP_011543871.1:p.Lys769GlufsTer27
XM_011545570.1:c.2222dup	XP_011543872.1:p.Lys742GlufsTer27
XR_950484.1:n.2606dup
NM_001323289.1:c.2354dup	NP_001310218.1:p.Lys786GlufsTer15
NM_001323289.2:c.2354dup MANE Select	NP_001310218.1:p.Lys786GlufsTer15
NM_001037343.2:c.2354dup	NP_001032420.1:p.Lys786GlufsTer15
NM_003159.3:c.2354dup	NP_003150.1:p.Lys786GlufsTer15