Canonical Allele Identifier: CA2417972591

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598533_18598535delinsCCA , CM000685.2:g.18598533_18598535delinsCCA	GRCh38
NC_000023.10:g.18616653_18616655delinsCCA , CM000685.1:g.18616653_18616655delinsCCA	GRCh37
NC_000023.9:g.18526574_18526576delinsCCA	NCBI36
NG_008475.1:g.177929_177931delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.897_899delinsCCA MANE Select	ENSP00000485244.1:p.Thr299=
ENST00000635828.1:c.897_899delinsCCA	ENSP00000490170.1:p.Thr299=
ENST00000637881.1:c.897_899delinsCCA	ENSP00000489879.1:p.Thr299=
ENST00000674046.1:c.897_899delinsCCA	ENSP00000501174.1:p.Thr299=
ENST00000379989.6:c.897_899delinsCCA	ENSP00000369325.3:p.Thr299=
ENST00000379996.7:c.897_899delinsCCA	ENSP00000369332.3:p.Thr299=
ENST00000463994.4:c.897_899delinsCCA	ENSP00000485184.1:p.Thr299=
ENST00000623535.1:c.897_899delinsCCA	ENSP00000485244.1:p.Thr299=
NM_001037343.1:c.897_899delinsCCA	NP_001032420.1:p.Thr299=
NM_003159.2:c.897_899delinsCCA	NP_003150.1:p.Thr299=
XM_011545569.1:c.897_899delinsCCA	XP_011543871.1:p.Thr299=
XM_011545570.1:c.765_767delinsCCA	XP_011543872.1:p.Thr255=
XR_950484.1:n.1149_1151delinsCCA
NM_001323289.1:c.897_899delinsCCA	NP_001310218.1:p.Thr299=
NM_001323289.2:c.897_899delinsCCA MANE Select	NP_001310218.1:p.Thr299=
NM_001037343.2:c.897_899delinsCCA	NP_001032420.1:p.Thr299=
NM_003159.3:c.897_899delinsCCA	NP_003150.1:p.Thr299=