Canonical Allele Identifier: CA916083844

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 870169
• ClinVar RCV Id: RCV001089704
• dbSNP Id: rs1926303951

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604776_18604777insT , CM000685.2:g.18604776_18604777insT	GRCh38
NC_000023.10:g.18622896_18622897insT , CM000685.1:g.18622896_18622897insT	GRCh37
NC_000023.9:g.18532817_18532818insT	NCBI36
NG_008475.1:g.184172_184173insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1852_1853insT MANE Select	ENSP00000485244.1:p.Asp618ValfsTer21
ENST00000635828.1:c.1852_1853insT	ENSP00000490170.1:p.Asp618ValfsTer21
ENST00000674046.1:c.1852_1853insT	ENSP00000501174.1:p.Asp618ValfsTer21
ENST00000379989.6:c.1852_1853insT	ENSP00000369325.3:p.Asp618ValfsTer21
ENST00000379996.7:c.1852_1853insT	ENSP00000369332.3:p.Asp618ValfsTer21
ENST00000463994.4:c.1852_1853insT	ENSP00000485184.1:p.Asp618ValfsTer21
ENST00000623535.1:c.1852_1853insT	ENSP00000485244.1:p.Asp618ValfsTer21
NM_001037343.1:c.1852_1853insT	NP_001032420.1:p.Asp618ValfsTer21
NM_003159.2:c.1852_1853insT	NP_003150.1:p.Asp618ValfsTer21
XM_011545569.1:c.1801_1802insT	XP_011543871.1:p.Asp601ValfsTer21
XM_011545570.1:c.1720_1721insT	XP_011543872.1:p.Asp574ValfsTer21
XR_950484.1:n.2104_2105insT
NM_001323289.1:c.1852_1853insT	NP_001310218.1:p.Asp618ValfsTer21
NM_001323289.2:c.1852_1853insT MANE Select	NP_001310218.1:p.Asp618ValfsTer21
NM_001037343.2:c.1852_1853insT	NP_001032420.1:p.Asp618ValfsTer21
NM_003159.3:c.1852_1853insT	NP_003150.1:p.Asp618ValfsTer21