Canonical Allele Identifier: CA2693220542
Gene: CDKL5 HGNC NCBI

Linked Data

gnomAD v4: X-18506931-TCAGGGAGTCA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18506932_18506941del , CM000685.2:g.18506932_18506941del GRCh38
NC_000023.10:g.18525052_18525061del , CM000685.1:g.18525052_18525061del GRCh37
NC_000023.9:g.18434973_18434982del NCBI36
NG_008475.1:g.86328_86337del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.-162-3_-156del
ENST00000635828.1:c.-162-3_-156del
ENST00000636046.1:n.62-3_68del
ENST00000637881.1:c.-162-3_-156del
ENST00000674046.1:c.-162-3_-156del
ENST00000379989.6:c.-162-3_-156del
ENST00000379996.7:c.-162-3_-156del
ENST00000463994.4:c.-162-3_-156del
ENST00000623364.3:c.-162-3_-156del
ENST00000624700.3:c.-162-3_-156del
ENST00000624953.1:c.-162-3_-156del
NM_001037343.1:c.-162-3_-156del
NM_003159.2:c.-162-3_-156del
XM_011545569.1:c.-162-3_-156del
XM_011545570.1:c.-248-3_-242del
XR_950484.1:n.91-3_97del
NM_001323289.2:c.-162-3_-156del
NM_001037343.2:c.-162-3_-156del
NM_003159.3:c.-162-3_-156del
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