Canonical Allele Identifier: CA2417973977
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604218_18604221delinsAAGT , CM000685.2:g.18604218_18604221delinsAAGT GRCh38
NC_000023.10:g.18622338_18622341delinsAAGT , CM000685.1:g.18622338_18622341delinsAAGT GRCh37
NC_000023.9:g.18532259_18532262delinsAAGT NCBI36
NG_008475.1:g.183614_183617delinsAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1294_1297delinsAAGT MANE Select ENSP00000485244.1:p.Lys432=
ENST00000635828.1:c.1294_1297delinsAAGT ENSP00000490170.1:p.Lys432=
ENST00000637881.1:c.1294_1297delinsAAGT ENSP00000489879.1:p.Lys432=
ENST00000674046.1:c.1294_1297delinsAAGT ENSP00000501174.1:p.Lys432=
ENST00000379989.6:c.1294_1297delinsAAGT ENSP00000369325.3:p.Lys432=
ENST00000379996.7:c.1294_1297delinsAAGT ENSP00000369332.3:p.Lys432=
ENST00000463994.4:c.1294_1297delinsAAGT ENSP00000485184.1:p.Lys432=
ENST00000623535.1:c.1294_1297delinsAAGT ENSP00000485244.1:p.Lys432=
NM_001037343.1:c.1294_1297delinsAAGT NP_001032420.1:p.Lys432=
NM_003159.2:c.1294_1297delinsAAGT NP_003150.1:p.Lys432=
XM_011545569.1:c.1243_1246delinsAAGT XP_011543871.1:p.Lys415=
XM_011545570.1:c.1162_1165delinsAAGT XP_011543872.1:p.Lys388=
XR_950484.1:n.1546_1549delinsAAGT
NM_001323289.1:c.1294_1297delinsAAGT NP_001310218.1:p.Lys432=
NM_001323289.2:c.1294_1297delinsAAGT MANE Select NP_001310218.1:p.Lys432=
NM_001037343.2:c.1294_1297delinsAAGT NP_001032420.1:p.Lys432=
NM_003159.3:c.1294_1297delinsAAGT NP_003150.1:p.Lys432=
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