Canonical Allele Identifier: CA412363398

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1521674
• ClinVar RCV Id: RCV002027952
• dbSNP Id: rs1555954068
• MyVariant Identifiers: chrX:g.18638015_18638016insAGC (hg19) ; chrX:g.18619895_18619896insAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619897_18619899dup , CM000685.2:g.18619897_18619899dup	GRCh38
NC_000023.10:g.18638017_18638019dup , CM000685.1:g.18638017_18638019dup	GRCh37
NC_000023.9:g.18547938_18547940dup	NCBI36
NG_008475.1:g.199293_199295dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2307_2309dup MANE Select	ENSP00000485244.1:p.Gln770_Leu771insGln
ENST00000635828.1:c.2307_2309dup	ENSP00000490170.1:p.Gln770_Leu771insGln
ENST00000674046.1:c.2307_2309dup	ENSP00000501174.1:p.Gln770_Leu771insGln
ENST00000379989.6:c.2307_2309dup	ENSP00000369325.3:p.Gln770_Leu771insGln
ENST00000379996.7:c.2307_2309dup	ENSP00000369332.3:p.Gln770_Leu771insGln
ENST00000463994.4:c.2307_2309dup	ENSP00000485184.1:p.Gln770_Leu771insGln
ENST00000623535.1:c.2307_2309dup	ENSP00000485244.1:p.Gln770_Leu771insGln
NM_001037343.1:c.2307_2309dup	NP_001032420.1:p.Gln770_Leu771insGln
NM_003159.2:c.2307_2309dup	NP_003150.1:p.Gln770_Leu771insGln
XM_011545569.1:c.2256_2258dup	XP_011543871.1:p.Gln753_Leu754insGln
XM_011545570.1:c.2175_2177dup	XP_011543872.1:p.Gln726_Leu727insGln
XR_950484.1:n.2559_2561dup
NM_001323289.1:c.2307_2309dup	NP_001310218.1:p.Gln770_Leu771insGln
NM_001323289.2:c.2307_2309dup MANE Select	NP_001310218.1:p.Gln770_Leu771insGln
NM_001037343.2:c.2307_2309dup	NP_001032420.1:p.Gln770_Leu771insGln
NM_003159.3:c.2307_2309dup	NP_003150.1:p.Gln770_Leu771insGln