Canonical Allele Identifier: CA333292

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 143838
• ClinVar RCV Id: RCV000012261 ; RCV000133391
• dbSNP Id: rs267608546
• MyVariant Identifiers: chrX:g.18616658_18616659dupGA (hg19) ; chrX:g.18598538_18598539dupGA (hg38)
• PubMed: PMID:19241098

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598538_18598539dup , CM000685.2:g.18598538_18598539dup	GRCh38
NC_000023.10:g.18616658_18616659dup , CM000685.1:g.18616658_18616659dup	GRCh37
NC_000023.9:g.18526579_18526580dup	NCBI36
NG_008475.1:g.177934_177935dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.902_903dup MANE Select	ENSP00000485244.1:p.Leu302AspfsTer?
ENST00000635828.1:c.902_903dup	ENSP00000490170.1:p.Leu302AspfsTer?
ENST00000637881.1:c.902_903dup	ENSP00000489879.1:p.Leu302AspfsTer?
ENST00000674046.1:c.902_903dup	ENSP00000501174.1:p.Leu302AspfsTer?
ENST00000379989.6:c.902_903dup	ENSP00000369325.3:p.Leu302AspfsTer?
ENST00000379996.7:c.902_903dup	ENSP00000369332.3:p.Leu302AspfsTer?
ENST00000463994.4:c.902_903dup	ENSP00000485184.1:p.Leu302AspfsTer?
ENST00000623535.1:c.902_903dup	ENSP00000485244.1:p.Leu302AspfsTer?
NM_001037343.1:c.902_903dup	NP_001032420.1:p.Leu302AspfsTer?
NM_003159.2:c.902_903dup	NP_003150.1:p.Leu302AspfsTer?
XM_011545569.1:c.902_903dup	XP_011543871.1:p.Leu302AspfsTer?
XM_011545570.1:c.770_771dup	XP_011543872.1:p.Leu258AspfsTer?
XR_950484.1:n.1154_1155dup
NM_001323289.1:c.902_903dup	NP_001310218.1:p.Leu302AspfsTer?
NM_001323289.2:c.902_903dup MANE Select	NP_001310218.1:p.Leu302AspfsTer?
NM_001037343.2:c.902_903dup	NP_001032420.1:p.Leu302AspfsTer?
NM_003159.3:c.902_903dup	NP_003150.1:p.Leu302AspfsTer?