Canonical Allele Identifier: CA1139667251

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 969040
• ClinVar RCV Id: RCV001244296
• dbSNP Id: rs1926620965

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613255_18613262del , CM000685.2:g.18613255_18613262del	GRCh38
NC_000023.10:g.18631375_18631382del , CM000685.1:g.18631375_18631382del	GRCh37
NC_000023.9:g.18541296_18541303del	NCBI36
NG_008475.1:g.192651_192658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2256_2263del MANE Select	ENSP00000485244.1:p.Arg752SerfsTer9
ENST00000635828.1:c.2256_2263del	ENSP00000490170.1:p.Arg752SerfsTer9
ENST00000674046.1:c.2256_2263del	ENSP00000501174.1:p.Arg752SerfsTer9
ENST00000379989.6:c.2256_2263del	ENSP00000369325.3:p.Arg752SerfsTer9
ENST00000379996.7:c.2256_2263del	ENSP00000369332.3:p.Arg752SerfsTer9
ENST00000463994.4:c.2256_2263del	ENSP00000485184.1:p.Arg752SerfsTer9
ENST00000623535.1:c.2256_2263del	ENSP00000485244.1:p.Arg752SerfsTer9
NM_001037343.1:c.2256_2263del	NP_001032420.1:p.Arg752SerfsTer9
NM_003159.2:c.2256_2263del	NP_003150.1:p.Arg752SerfsTer9
XM_011545569.1:c.2205_2212del	XP_011543871.1:p.Arg735SerfsTer9
XM_011545570.1:c.2124_2131del	XP_011543872.1:p.Arg708SerfsTer9
XR_950484.1:n.2508_2515del
NM_001323289.1:c.2256_2263del	NP_001310218.1:p.Arg752SerfsTer9
NM_001323289.2:c.2256_2263del MANE Select	NP_001310218.1:p.Arg752SerfsTer9
NM_001037343.2:c.2256_2263del	NP_001032420.1:p.Arg752SerfsTer9
NM_003159.3:c.2256_2263del	NP_003150.1:p.Arg752SerfsTer9