Canonical Allele Identifier: CA207601
Gene: CDKL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18510820dup , CM000685.2:g.18510820dup GRCh38
NC_000023.10:g.18528940dup , CM000685.1:g.18528940dup GRCh37
NC_000023.9:g.18438861dup NCBI36
NG_008475.1:g.90216dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.65dup
ENST00000635828.1:c.65dup
ENST00000637881.1:c.65dup
ENST00000674046.1:c.65dup
ENST00000379989.6:c.65dup
ENST00000379996.7:c.65dup
ENST00000463994.4:c.65dup
ENST00000623364.3:c.65dup
ENST00000623535.1:c.65dup
ENST00000624700.3:c.65dup
NM_001037343.1:c.65dup
NM_003159.2:c.65dup
XM_011545569.1:c.65dup
XM_011545570.1:c.-22dup
XR_950484.1:n.317dup
NM_001323289.1:c.65dup
NM_001323289.2:c.65dup
NM_001037343.2:c.65dup
NM_003159.3:c.65dup