Canonical Allele Identifier: CA2693220539
Gene: CDKL5 HGNC NCBI

Linked Data

gnomAD v4: X-18506925-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18506925T>G , CM000685.2:g.18506925T>G GRCh38
NC_000023.10:g.18525045T>G , CM000685.1:g.18525045T>G GRCh37
NC_000023.9:g.18434966T>G NCBI36
NG_008475.1:g.86321T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.-162-10T>G MANE Select ENSP00000485244.1:n.-162-10T>G
ENST00000635828.1:c.-162-10T>G ENSP00000490170.1:n.-162-10T>G
ENST00000636046.1:n.62-10T>G
ENST00000637881.1:c.-162-10T>G ENSP00000489879.1:n.-162-10T>G
ENST00000674046.1:c.-162-10T>G ENSP00000501174.1:n.-162-10T>G
ENST00000379989.6:c.-162-10T>G ENSP00000369325.3:n.-162-10T>G
ENST00000379996.7:c.-162-10T>G ENSP00000369332.3:n.-162-10T>G
ENST00000463994.4:c.-162-10T>G ENSP00000485184.1:n.-162-10T>G
ENST00000623364.3:c.-162-10T>G ENSP00000485581.1:n.-162-10T>G
ENST00000624700.3:c.-162-10T>G ENSP00000485359.1:n.-162-10T>G
ENST00000624953.1:c.-162-10T>G ENSP00000485625.1:n.-162-10T>G
NM_001037343.1:c.-162-10T>G NP_001032420.1:n.-162-10T>G
NM_003159.2:c.-162-10T>G NP_003150.1:n.-162-10T>G
XM_011545569.1:c.-162-10T>G XP_011543871.1:n.-162-10T>G
XM_011545570.1:c.-248-10T>G XP_011543872.1:n.-248-10T>G
XR_950484.1:n.91-10T>G
NM_001323289.2:c.-162-10T>G MANE Select NP_001310218.1:n.-162-10T>G
NM_001037343.2:c.-162-10T>G NP_001032420.1:n.-162-10T>G
NM_003159.3:c.-162-10T>G NP_003150.1:n.-162-10T>G
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