Canonical Allele Identifier: CA2573158447

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1472179
• ClinVar RCV Id: RCV001975877
• dbSNP Id: rs2147132235

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18564485_18564487del , CM000685.2:g.18564485_18564487del	GRCh38
NC_000023.10:g.18582605_18582607del , CM000685.1:g.18582605_18582607del	GRCh37
NC_000023.9:g.18492526_18492528del	NCBI36
NG_008475.1:g.143881_143883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.108_110del MANE Select	ENSP00000485244.1:p.His36_Glu37delinsGln
ENST00000635828.1:c.108_110del	ENSP00000490170.1:p.His36_Glu37delinsGln
ENST00000637881.1:c.108_110del	ENSP00000489879.1:p.His36_Glu37delinsGln
ENST00000674046.1:c.108_110del	ENSP00000501174.1:p.His36_Glu37delinsGln
ENST00000379989.6:c.108_110del	ENSP00000369325.3:p.His36_Glu37delinsGln
ENST00000379996.7:c.108_110del	ENSP00000369332.3:p.His36_Glu37delinsGln
ENST00000463994.4:c.108_110del	ENSP00000485184.1:p.His36_Glu37delinsGln
ENST00000623364.3:c.108_110del	ENSP00000485581.1:p.His36_Glu37delinsGln
ENST00000623535.1:c.108_110del	ENSP00000485244.1:p.His36_Glu37delinsGln
ENST00000624700.3:c.108_110del	ENSP00000485359.1:p.His36_Glu37delinsGln
NM_001037343.1:c.108_110del	NP_001032420.1:p.His36_Glu37delinsGln
NM_003159.2:c.108_110del	NP_003150.1:p.His36_Glu37delinsGln
XM_011545569.1:c.108_110del	XP_011543871.1:p.His36_Glu37delinsGln
XM_011545570.1:c.14-10869_14-10867del	XP_011543872.1:n.14-10869_14-10867del
XR_950484.1:n.360_362del
NM_001323289.1:c.108_110del	NP_001310218.1:p.His36_Glu37delinsGln
NM_001323289.2:c.108_110del MANE Select	NP_001310218.1:p.His36_Glu37delinsGln
NM_001037343.2:c.108_110del	NP_001032420.1:p.His36_Glu37delinsGln
NM_003159.3:c.108_110del	NP_003150.1:p.His36_Glu37delinsGln