Canonical Allele Identifier: CA1139667250

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 983033
• ClinVar RCV Id: RCV001262848
• dbSNP Id: rs1926618813

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613212_18613214del , CM000685.2:g.18613212_18613214del	GRCh38
NC_000023.10:g.18631332_18631334del , CM000685.1:g.18631332_18631334del	GRCh37
NC_000023.9:g.18541253_18541255del	NCBI36
NG_008475.1:g.192608_192610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2213_2215del MANE Select	ENSP00000485244.1:p.Ser738del
ENST00000635828.1:c.2213_2215del	ENSP00000490170.1:p.Ser738del
ENST00000674046.1:c.2213_2215del	ENSP00000501174.1:p.Ser738del
ENST00000379989.6:c.2213_2215del	ENSP00000369325.3:p.Ser738del
ENST00000379996.7:c.2213_2215del	ENSP00000369332.3:p.Ser738del
ENST00000463994.4:c.2213_2215del	ENSP00000485184.1:p.Ser738del
ENST00000623535.1:c.2213_2215del	ENSP00000485244.1:p.Ser738del
NM_001037343.1:c.2213_2215del	NP_001032420.1:p.Ser738del
NM_003159.2:c.2213_2215del	NP_003150.1:p.Ser738del
XM_011545569.1:c.2162_2164del	XP_011543871.1:p.Ser721del
XM_011545570.1:c.2081_2083del	XP_011543872.1:p.Ser694del
XR_950484.1:n.2465_2467del
NM_001323289.1:c.2213_2215del	NP_001310218.1:p.Ser738del
NM_001323289.2:c.2213_2215del MANE Select	NP_001310218.1:p.Ser738del
NM_001037343.2:c.2213_2215del	NP_001032420.1:p.Ser738del
NM_003159.3:c.2213_2215del	NP_003150.1:p.Ser738del