Canonical Allele Identifier: CA2417977343

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613211_18613214delinsTCTC , CM000685.2:g.18613211_18613214delinsTCTC	GRCh38
NC_000023.10:g.18631331_18631334delinsTCTC , CM000685.1:g.18631331_18631334delinsTCTC	GRCh37
NC_000023.9:g.18541252_18541255delinsTCTC	NCBI36
NG_008475.1:g.192607_192610delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2212_2215delinsTCTC MANE Select	ENSP00000485244.1:p.Ser738=
ENST00000635828.1:c.2212_2215delinsTCTC	ENSP00000490170.1:p.Ser738=
ENST00000674046.1:c.2212_2215delinsTCTC	ENSP00000501174.1:p.Ser738=
ENST00000379989.6:c.2212_2215delinsTCTC	ENSP00000369325.3:p.Ser738=
ENST00000379996.7:c.2212_2215delinsTCTC	ENSP00000369332.3:p.Ser738=
ENST00000463994.4:c.2212_2215delinsTCTC	ENSP00000485184.1:p.Ser738=
ENST00000623535.1:c.2212_2215delinsTCTC	ENSP00000485244.1:p.Ser738=
NM_001037343.1:c.2212_2215delinsTCTC	NP_001032420.1:p.Ser738=
NM_003159.2:c.2212_2215delinsTCTC	NP_003150.1:p.Ser738=
XM_011545569.1:c.2161_2164delinsTCTC	XP_011543871.1:p.Ser721=
XM_011545570.1:c.2080_2083delinsTCTC	XP_011543872.1:p.Ser694=
XR_950484.1:n.2464_2467delinsTCTC
NM_001323289.1:c.2212_2215delinsTCTC	NP_001310218.1:p.Ser738=
NM_001323289.2:c.2212_2215delinsTCTC MANE Select	NP_001310218.1:p.Ser738=
NM_001037343.2:c.2212_2215delinsTCTC	NP_001032420.1:p.Ser738=
NM_003159.3:c.2212_2215delinsTCTC	NP_003150.1:p.Ser738=