Canonical Allele Identifier: CA640511606

Gene: CDKL5

Linked Data

• gnomAD v2: X-18616642-A-AT
• MyVariant Identifiers: chrX:g.18616642_18616643insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598522_18598523insT , CM000685.2:g.18598522_18598523insT	GRCh38
NC_000023.10:g.18616642_18616643insT , CM000685.1:g.18616642_18616643insT	GRCh37
NC_000023.9:g.18526563_18526564insT	NCBI36
NG_008475.1:g.177918_177919insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.886_887insT MANE Select	ENSP00000485244.1:p.Thr296IlefsTer30
ENST00000635828.1:c.886_887insT	ENSP00000490170.1:p.Thr296IlefsTer30
ENST00000637881.1:c.886_887insT	ENSP00000489879.1:p.Thr296IlefsTer30
ENST00000674046.1:c.886_887insT	ENSP00000501174.1:p.Thr296IlefsTer30
ENST00000379989.6:c.886_887insT	ENSP00000369325.3:p.Thr296IlefsTer30
ENST00000379996.7:c.886_887insT	ENSP00000369332.3:p.Thr296IlefsTer30
ENST00000463994.4:c.886_887insT	ENSP00000485184.1:p.Thr296IlefsTer30
ENST00000623535.1:c.886_887insT	ENSP00000485244.1:p.Thr296IlefsTer30
NM_001037343.1:c.886_887insT	NP_001032420.1:p.Thr296IlefsTer30
NM_003159.2:c.886_887insT	NP_003150.1:p.Thr296IlefsTer30
XM_011545569.1:c.886_887insT	XP_011543871.1:p.Thr296IlefsTer30
XM_011545570.1:c.754_755insT	XP_011543872.1:p.Thr252IlefsTer30
XR_950484.1:n.1138_1139insT
NM_001323289.1:c.886_887insT	NP_001310218.1:p.Thr296IlefsTer30
NM_001323289.2:c.886_887insT MANE Select	NP_001310218.1:p.Thr296IlefsTer30
NM_001037343.2:c.886_887insT	NP_001032420.1:p.Thr296IlefsTer30
NM_003159.3:c.886_887insT	NP_003150.1:p.Thr296IlefsTer30