Canonical Allele Identifier: CA2521845339
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18507049_18507050insAT , CM000685.2:g.18507049_18507050insAT GRCh38
NC_000023.10:g.18525169_18525170insAT , CM000685.1:g.18525169_18525170insAT GRCh37
NC_000023.9:g.18435090_18435091insAT NCBI36
NG_008475.1:g.86445_86446insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.-48_-47insAT MANE Select ENSP00000485244.1:n.-48_-47insAT
ENST00000635828.1:c.-48_-47insAT ENSP00000490170.1:n.-48_-47insAT
ENST00000637881.1:c.-48_-47insAT ENSP00000489879.1:n.-48_-47insAT
ENST00000674046.1:c.-48_-47insAT ENSP00000501174.1:n.-48_-47insAT
ENST00000379989.6:c.-48_-47insAT ENSP00000369325.3:n.-48_-47insAT
ENST00000379996.7:c.-48_-47insAT ENSP00000369332.3:n.-48_-47insAT
ENST00000463994.4:c.-48_-47insAT ENSP00000485184.1:n.-48_-47insAT
ENST00000623364.3:c.-48_-47insAT ENSP00000485581.1:n.-48_-47insAT
ENST00000624700.3:c.-48_-47insAT ENSP00000485359.1:n.-48_-47insAT
ENST00000624953.1:c.-48_-47insAT ENSP00000485625.1:n.-48_-47insAT
NM_001037343.1:c.-48_-47insAT NP_001032420.1:n.-48_-47insAT
NM_003159.2:c.-48_-47insAT NP_003150.1:n.-48_-47insAT
XM_011545569.1:c.-48_-47insAT XP_011543871.1:n.-48_-47insAT
XM_011545570.1:c.-134_-133insAT XP_011543872.1:n.-134_-133insAT
XR_950484.1:n.205_206insAT
NM_001323289.1:c.-48_-47insAT NP_001310218.1:n.-48_-47insAT
NM_001323289.2:c.-48_-47insAT MANE Select NP_001310218.1:n.-48_-47insAT
NM_001037343.2:c.-48_-47insAT NP_001032420.1:n.-48_-47insAT
NM_003159.3:c.-48_-47insAT NP_003150.1:n.-48_-47insAT
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