Canonical Allele Identifier: CA2417943283
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18507352_18507353delinsCT , CM000685.2:g.18507352_18507353delinsCT GRCh38
NC_000023.10:g.18525472_18525473delinsCT , CM000685.1:g.18525472_18525473delinsCT GRCh37
NC_000023.9:g.18435393_18435394delinsCT NCBI36
NG_008475.1:g.86748_86749delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.64+192_64+193delinsCT MANE Select ENSP00000485244.1:n.64+192_64+193delinsCT
ENST00000635828.1:c.64+192_64+193delinsCT ENSP00000490170.1:n.64+192_64+193delinsCT
ENST00000637881.1:c.64+192_64+193delinsCT ENSP00000489879.1:n.64+192_64+193delinsCT
ENST00000674046.1:c.64+192_64+193delinsCT ENSP00000501174.1:n.64+192_64+193delinsCT
ENST00000379989.6:c.64+192_64+193delinsCT ENSP00000369325.3:n.64+192_64+193delinsCT
ENST00000379996.7:c.64+192_64+193delinsCT ENSP00000369332.3:n.64+192_64+193delinsCT
ENST00000463994.4:c.64+192_64+193delinsCT ENSP00000485184.1:n.64+192_64+193delinsCT
ENST00000623364.3:c.64+192_64+193delinsCT ENSP00000485581.1:n.64+192_64+193delinsCT
ENST00000623535.1:c.64+192_64+193delinsCT ENSP00000485244.1:n.64+192_64+193delinsCT
ENST00000624700.3:c.64+192_64+193delinsCT ENSP00000485359.1:n.64+192_64+193delinsCT
NM_001037343.1:c.64+192_64+193delinsCT NP_001032420.1:n.64+192_64+193delinsCT
NM_003159.2:c.64+192_64+193delinsCT NP_003150.1:n.64+192_64+193delinsCT
XM_011545569.1:c.64+192_64+193delinsCT XP_011543871.1:n.64+192_64+193delinsCT
XM_011545570.1:c.-23+192_-23+193delinsCT XP_011543872.1:n.-23+192_-23+193delinsCT
XR_950484.1:n.316+192_316+193delinsCT
NM_001323289.1:c.64+192_64+193delinsCT NP_001310218.1:n.64+192_64+193delinsCT
NM_001323289.2:c.64+192_64+193delinsCT MANE Select NP_001310218.1:n.64+192_64+193delinsCT
NM_001037343.2:c.64+192_64+193delinsCT NP_001032420.1:n.64+192_64+193delinsCT
NM_003159.3:c.64+192_64+193delinsCT NP_003150.1:n.64+192_64+193delinsCT
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