Canonical Allele Identifier: CA327007701

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 858055
• ClinVar RCV Id: RCV001063857
• dbSNP Id: rs34335533
• MyVariant Identifiers: chrX:g.18638088_18638089insA (hg19) ; chrX:g.18619968_18619969insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619970dup , CM000685.2:g.18619970dup	GRCh38
NC_000023.10:g.18638090dup , CM000685.1:g.18638090dup	GRCh37
NC_000023.9:g.18548011dup	NCBI36
NG_008475.1:g.199366dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2376+4dup MANE Select	ENSP00000485244.1:n.2376+4dup
ENST00000635828.1:c.2376+4dup	ENSP00000490170.1:n.2376+4dup
ENST00000674046.1:c.2376+4dup	ENSP00000501174.1:n.2376+4dup
ENST00000379989.6:c.2376+4dup	ENSP00000369325.3:n.2376+4dup
ENST00000379996.7:c.2376+4dup	ENSP00000369332.3:n.2376+4dup
ENST00000623535.1:c.2376+4dup	ENSP00000485244.1:n.2376+4dup
NM_001037343.1:c.2376+4dup	NP_001032420.1:n.2376+4dup
NM_003159.2:c.2376+4dup	NP_003150.1:n.2376+4dup
XM_011545569.1:c.2325+4dup	XP_011543871.1:n.2325+4dup
XM_011545570.1:c.2244+4dup	XP_011543872.1:n.2244+4dup
XR_950484.1:n.2628+4dup
NM_001323289.1:c.2376+4dup	NP_001310218.1:n.2376+4dup
NM_001323289.2:c.2376+4dup MANE Select	NP_001310218.1:n.2376+4dup
NM_001037343.2:c.2376+4dup	NP_001032420.1:n.2376+4dup
NM_003159.3:c.2376+4dup	NP_003150.1:n.2376+4dup