Canonical Allele Identifier: CA2417974346

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18603912_18603934delinsGGCAAAAGTACTGCTTTGCAGTC , CM000685.2:g.18603912_18603934delinsGGCAAAAGTACTGCTTTGCAGTC	GRCh38
NC_000023.10:g.18622032_18622054delinsGGCAAAAGTACTGCTTTGCAGTC , CM000685.1:g.18622032_18622054delinsGGCAAAAGTACTGCTTTGCAGTC	GRCh37
NC_000023.9:g.18531953_18531975delinsGGCAAAAGTACTGCTTTGCAGTC	NCBI36
NG_008475.1:g.183308_183330delinsGGCAAAAGTACTGCTTTGCAGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC MANE Select	ENSP00000485244.1:p.Gly330=
ENST00000635828.1:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	ENSP00000490170.1:p.Gly330=
ENST00000637881.1:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	ENSP00000489879.1:p.Gly330=
ENST00000674046.1:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	ENSP00000501174.1:p.Gly330=
ENST00000379989.6:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	ENSP00000369325.3:p.Gly330=
ENST00000379996.7:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	ENSP00000369332.3:p.Gly330=
ENST00000463994.4:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	ENSP00000485184.1:p.Gly330=
ENST00000623535.1:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	ENSP00000485244.1:p.Gly330=
NM_001037343.1:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	NP_001032420.1:p.Gly330=
NM_003159.2:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	NP_003150.1:p.Gly330=
XM_011545569.1:c.937_959delinsGGCAAAAGTACTGCTTTGCAGTC	XP_011543871.1:p.Gly313=
XM_011545570.1:c.856_878delinsGGCAAAAGTACTGCTTTGCAGTC	XP_011543872.1:p.Gly286=
XR_950484.1:n.1240_1262delinsGGCAAAAGTACTGCTTTGCAGTC
NM_001323289.1:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	NP_001310218.1:p.Gly330=
NM_001323289.2:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC MANE Select	NP_001310218.1:p.Gly330=
NM_001037343.2:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	NP_001032420.1:p.Gly330=
NM_003159.3:c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC	NP_003150.1:p.Gly330=