Canonical Allele Identifier: CA2417982169

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628402_18628403delinsTA , CM000685.2:g.18628402_18628403delinsTA	GRCh38
NC_000023.10:g.18646522_18646523delinsTA , CM000685.1:g.18646522_18646523delinsTA	GRCh37
NC_000023.9:g.18556443_18556444delinsTA	NCBI36
NG_008475.1:g.207798_207799delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2528_2529delinsTA MANE Select	ENSP00000485244.1:p.Leu843=
ENST00000674046.1:c.2651_2652delinsTA	ENSP00000501174.1:p.Leu884=
ENST00000379989.6:c.2528_2529delinsTA	ENSP00000369325.3:p.Leu843=
ENST00000379996.7:c.2528_2529delinsTA	ENSP00000369332.3:p.Leu843=
ENST00000623535.1:c.2528_2529delinsTA	ENSP00000485244.1:p.Leu843=
NM_001037343.1:c.2528_2529delinsTA	NP_001032420.1:p.Leu843=
NM_003159.2:c.2528_2529delinsTA	NP_003150.1:p.Leu843=
XM_011545569.1:c.2600_2601delinsTA	XP_011543871.1:p.Leu867=
XM_011545570.1:c.2519_2520delinsTA	XP_011543872.1:p.Leu840=
XR_950484.1:n.2903_2904delinsTA
NM_001323289.1:c.2528_2529delinsTA	NP_001310218.1:p.Leu843=
NM_001323289.2:c.2528_2529delinsTA MANE Select	NP_001310218.1:p.Leu843=
NM_001037343.2:c.2528_2529delinsTA	NP_001032420.1:p.Leu843=
NM_003159.3:c.2528_2529delinsTA	NP_003150.1:p.Leu843=