Canonical Allele Identifier: CA640510437

Gene: CDKL5

Linked Data

• dbSNP Id: rs1417636832
• gnomAD v2: X-18638106-C-CTA
• gnomAD v4: X-18619986-C-CTA
• MyVariant Identifiers: chrX:g.18638106_18638107insTA (hg19) ; chrX:g.18619986_18619987insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619993_18619994dup , CM000685.2:g.18619993_18619994dup	GRCh38
NC_000023.10:g.18638113_18638114dup , CM000685.1:g.18638113_18638114dup	GRCh37
NC_000023.9:g.18548034_18548035dup	NCBI36
NG_008475.1:g.199389_199390dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.2376+27_2376+28dup MANE Select	ENSP00000485244.1:n.2376+27_2376+28dup
ENST00000635828.1:c.2376+27_2376+28dup	ENSP00000490170.1:n.2376+27_2376+28dup
ENST00000674046.1:c.2376+27_2376+28dup	ENSP00000501174.1:n.2376+27_2376+28dup
ENST00000379989.6:c.2376+27_2376+28dup	ENSP00000369325.3:n.2376+27_2376+28dup
ENST00000379996.7:c.2376+27_2376+28dup	ENSP00000369332.3:n.2376+27_2376+28dup
ENST00000623535.1:c.2376+27_2376+28dup	ENSP00000485244.1:n.2376+27_2376+28dup
NM_001037343.1:c.2376+27_2376+28dup	NP_001032420.1:n.2376+27_2376+28dup
NM_003159.2:c.2376+27_2376+28dup	NP_003150.1:n.2376+27_2376+28dup
XM_011545569.1:c.2325+27_2325+28dup	XP_011543871.1:n.2325+27_2325+28dup
XM_011545570.1:c.2244+27_2244+28dup	XP_011543872.1:n.2244+27_2244+28dup
XR_950484.1:n.2628+27_2628+28dup
NM_001323289.1:c.2376+27_2376+28dup	NP_001310218.1:n.2376+27_2376+28dup
NM_001323289.2:c.2376+27_2376+28dup MANE Select	NP_001310218.1:n.2376+27_2376+28dup
NM_001037343.2:c.2376+27_2376+28dup	NP_001032420.1:n.2376+27_2376+28dup
NM_003159.3:c.2376+27_2376+28dup	NP_003150.1:n.2376+27_2376+28dup