Canonical Allele Identifier: CA915950764

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 813762
• ClinVar RCV Id: RCV001004700
• dbSNP Id: rs1602282699

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598534_18598535del , CM000685.2:g.18598534_18598535del	GRCh38
NC_000023.10:g.18616654_18616655del , CM000685.1:g.18616654_18616655del	GRCh37
NC_000023.9:g.18526575_18526576del	NCBI36
NG_008475.1:g.177930_177931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.898_899del MANE Select	ENSP00000485244.1:p.Gln300GlufsTer25
ENST00000635828.1:c.898_899del	ENSP00000490170.1:p.Gln300GlufsTer25
ENST00000637881.1:c.898_899del	ENSP00000489879.1:p.Gln300GlufsTer25
ENST00000674046.1:c.898_899del	ENSP00000501174.1:p.Gln300GlufsTer25
ENST00000379989.6:c.898_899del	ENSP00000369325.3:p.Gln300GlufsTer25
ENST00000379996.7:c.898_899del	ENSP00000369332.3:p.Gln300GlufsTer25
ENST00000463994.4:c.898_899del	ENSP00000485184.1:p.Gln300GlufsTer25
ENST00000623535.1:c.898_899del	ENSP00000485244.1:p.Gln300GlufsTer25
NM_001037343.1:c.898_899del	NP_001032420.1:p.Gln300GlufsTer25
NM_003159.2:c.898_899del	NP_003150.1:p.Gln300GlufsTer25
XM_011545569.1:c.898_899del	XP_011543871.1:p.Gln300GlufsTer25
XM_011545570.1:c.766_767del	XP_011543872.1:p.Gln256GlufsTer25
XR_950484.1:n.1150_1151del
NM_001323289.1:c.898_899del	NP_001310218.1:p.Gln300GlufsTer25
NM_001323289.2:c.898_899del MANE Select	NP_001310218.1:p.Gln300GlufsTer25
NM_001037343.2:c.898_899del	NP_001032420.1:p.Gln300GlufsTer25
NM_003159.3:c.898_899del	NP_003150.1:p.Gln300GlufsTer25