Canonical Allele Identifier: CA515470568
Gene: CDKL5 HGNC NCBI

Linked Data

dbSNP Id: rs1248063303
gnomAD v2: X-18646523-A-G
gnomAD v4: X-18628403-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18628403A>G , CM000685.2:g.18628403A>G GRCh38
NC_000023.10:g.18646523A>G , CM000685.1:g.18646523A>G GRCh37
NC_000023.9:g.18556444A>G NCBI36
NG_008475.1:g.207799A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2529A>G MANE Select ENSP00000485244.1:p.Leu843=
ENST00000674046.1:c.2652A>G ENSP00000501174.1:p.Leu884=
ENST00000379989.6:c.2529A>G ENSP00000369325.3:p.Leu843=
ENST00000379996.7:c.2529A>G ENSP00000369332.3:p.Leu843=
ENST00000623535.1:c.2529A>G ENSP00000485244.1:p.Leu843=
NM_001037343.1:c.2529A>G NP_001032420.1:p.Leu843=
NM_003159.2:c.2529A>G NP_003150.1:p.Leu843=
XM_011545569.1:c.2601A>G XP_011543871.1:p.Leu867=
XM_011545570.1:c.2520A>G XP_011543872.1:p.Leu840=
XR_950484.1:n.2904A>G
NM_001323289.1:c.2529A>G NP_001310218.1:p.Leu843=
NM_001323289.2:c.2529A>G MANE Select NP_001310218.1:p.Leu843=
NM_001037343.2:c.2529A>G NP_001032420.1:p.Leu843=
NM_003159.3:c.2529A>G NP_003150.1:p.Leu843=