Canonical Allele Identifier: CA2417977310
Gene: CDKL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18613120_18613137delinsGTCCATCAGTGACTTACT , CM000685.2:g.18613120_18613137delinsGTCCATCAGTGACTTACT GRCh38
NC_000023.10:g.18631240_18631257delinsGTCCATCAGTGACTTACT , CM000685.1:g.18631240_18631257delinsGTCCATCAGTGACTTACT GRCh37
NC_000023.9:g.18541161_18541178delinsGTCCATCAGTGACTTACT NCBI36
NG_008475.1:g.192516_192533delinsGTCCATCAGTGACTTACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT MANE Select ENSP00000485244.1:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
ENST00000635828.1:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT ENSP00000490170.1:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
ENST00000674046.1:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT ENSP00000501174.1:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
ENST00000379989.6:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT ENSP00000369325.3:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
ENST00000379996.7:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT ENSP00000369332.3:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
ENST00000463994.4:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT ENSP00000485184.1:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
ENST00000623535.1:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT ENSP00000485244.1:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
NM_001037343.1:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT NP_001032420.1:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
NM_003159.2:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT NP_003150.1:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
XM_011545569.1:c.2102-32_2102-15delinsGTCCATCAGTGACTTACT XP_011543871.1:n.2102-32_2102-15delinsGTCCATCAGTGACTTACT
XM_011545570.1:c.2021-32_2021-15delinsGTCCATCAGTGACTTACT XP_011543872.1:n.2021-32_2021-15delinsGTCCATCAGTGACTTACT
XR_950484.1:n.2405-32_2405-15delinsGTCCATCAGTGACTTACT
NM_001323289.1:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT NP_001310218.1:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
NM_001323289.2:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT MANE Select NP_001310218.1:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
NM_001037343.2:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT NP_001032420.1:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT
NM_003159.3:c.2153-32_2153-15delinsGTCCATCAGTGACTTACT NP_003150.1:n.2153-32_2153-15delinsGTCCATCAGTGACTTACT