Canonical Allele Identifier: CA10360485

Gene: CDKL5

Linked Data

• dbSNP Id: rs753447720
• ExAC: X:18631231 A / AAAAG
• MyVariant Identifiers: chrX:g.18631231_18631232insAAAG (hg19) ; chrX:g.18613111_18613112insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613115_18613118dup , CM000685.2:g.18613115_18613118dup	GRCh38
NC_000023.10:g.18631235_18631238dup , CM000685.1:g.18631235_18631238dup	GRCh37
NC_000023.9:g.18541156_18541159dup	NCBI36
NG_008475.1:g.192511_192514dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153-37_2153-34dup MANE Select	ENSP00000485244.1:n.2153-37_2153-34dup
ENST00000635828.1:c.2153-37_2153-34dup	ENSP00000490170.1:n.2153-37_2153-34dup
ENST00000674046.1:c.2153-37_2153-34dup	ENSP00000501174.1:n.2153-37_2153-34dup
ENST00000379989.6:c.2153-37_2153-34dup	ENSP00000369325.3:n.2153-37_2153-34dup
ENST00000379996.7:c.2153-37_2153-34dup	ENSP00000369332.3:n.2153-37_2153-34dup
ENST00000463994.4:c.2153-37_2153-34dup	ENSP00000485184.1:n.2153-37_2153-34dup
ENST00000623535.1:c.2153-37_2153-34dup	ENSP00000485244.1:n.2153-37_2153-34dup
NM_001037343.1:c.2153-37_2153-34dup	NP_001032420.1:n.2153-37_2153-34dup
NM_003159.2:c.2153-37_2153-34dup	NP_003150.1:n.2153-37_2153-34dup
XM_011545569.1:c.2102-37_2102-34dup	XP_011543871.1:n.2102-37_2102-34dup
XM_011545570.1:c.2021-37_2021-34dup	XP_011543872.1:n.2021-37_2021-34dup
XR_950484.1:n.2405-37_2405-34dup
NM_001323289.1:c.2153-37_2153-34dup	NP_001310218.1:n.2153-37_2153-34dup
NM_001323289.2:c.2153-37_2153-34dup MANE Select	NP_001310218.1:n.2153-37_2153-34dup
NM_001037343.2:c.2153-37_2153-34dup	NP_001032420.1:n.2153-37_2153-34dup
NM_003159.3:c.2153-37_2153-34dup	NP_003150.1:n.2153-37_2153-34dup