Canonical Allele Identifier: CA2417977339

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613201_18613203delinsTAG , CM000685.2:g.18613201_18613203delinsTAG	GRCh38
NC_000023.10:g.18631321_18631323delinsTAG , CM000685.1:g.18631321_18631323delinsTAG	GRCh37
NC_000023.9:g.18541242_18541244delinsTAG	NCBI36
NG_008475.1:g.192597_192599delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2202_2204delinsTAG MANE Select	ENSP00000485244.1:p.Thr734=
ENST00000635828.1:c.2202_2204delinsTAG	ENSP00000490170.1:p.Thr734=
ENST00000674046.1:c.2202_2204delinsTAG	ENSP00000501174.1:p.Thr734=
ENST00000379989.6:c.2202_2204delinsTAG	ENSP00000369325.3:p.Thr734=
ENST00000379996.7:c.2202_2204delinsTAG	ENSP00000369332.3:p.Thr734=
ENST00000463994.4:c.2202_2204delinsTAG	ENSP00000485184.1:p.Thr734=
ENST00000623535.1:c.2202_2204delinsTAG	ENSP00000485244.1:p.Thr734=
NM_001037343.1:c.2202_2204delinsTAG	NP_001032420.1:p.Thr734=
NM_003159.2:c.2202_2204delinsTAG	NP_003150.1:p.Thr734=
XM_011545569.1:c.2151_2153delinsTAG	XP_011543871.1:p.Thr717=
XM_011545570.1:c.2070_2072delinsTAG	XP_011543872.1:p.Thr690=
XR_950484.1:n.2454_2456delinsTAG
NM_001323289.1:c.2202_2204delinsTAG	NP_001310218.1:p.Thr734=
NM_001323289.2:c.2202_2204delinsTAG MANE Select	NP_001310218.1:p.Thr734=
NM_001037343.2:c.2202_2204delinsTAG	NP_001032420.1:p.Thr734=
NM_003159.3:c.2202_2204delinsTAG	NP_003150.1:p.Thr734=