Canonical Allele Identifier: CA657744390
Gene: CDKL5 HGNC NCBI

Linked Data

COSMIC: COSN507535
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18507093C>G , CM000685.2:g.18507093C>G GRCh38
NC_000023.10:g.18525213C>G , CM000685.1:g.18525213C>G GRCh37
NC_000023.9:g.18435134C>G NCBI36
NG_008475.1:g.86489C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.-4C>G MANE Select ENSP00000485244.1:n.-4C>G
ENST00000635828.1:c.-4C>G ENSP00000490170.1:n.-4C>G
ENST00000637881.1:c.-4C>G ENSP00000489879.1:n.-4C>G
ENST00000674046.1:c.-4C>G ENSP00000501174.1:n.-4C>G
ENST00000379989.6:c.-4C>G ENSP00000369325.3:n.-4C>G
ENST00000379996.7:c.-4C>G ENSP00000369332.3:n.-4C>G
ENST00000463994.4:c.-4C>G ENSP00000485184.1:n.-4C>G
ENST00000623364.3:c.-4C>G ENSP00000485581.1:n.-4C>G
ENST00000624700.3:c.-4C>G ENSP00000485359.1:n.-4C>G
ENST00000624953.1:c.-4C>G ENSP00000485625.1:n.-4C>G
NM_001037343.1:c.-4C>G NP_001032420.1:n.-4C>G
NM_003159.2:c.-4C>G NP_003150.1:n.-4C>G
XM_011545569.1:c.-4C>G XP_011543871.1:n.-4C>G
XM_011545570.1:c.-90C>G XP_011543872.1:n.-90C>G
XR_950484.1:n.249C>G
NM_001323289.1:c.-4C>G NP_001310218.1:n.-4C>G
NM_001323289.2:c.-4C>G MANE Select NP_001310218.1:n.-4C>G
NM_001037343.2:c.-4C>G NP_001032420.1:n.-4C>G
NM_003159.3:c.-4C>G NP_003150.1:n.-4C>G
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