Canonical Allele Identifier: CA2819902067
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604138_18604146del , CM000685.2:g.18604138_18604146del GRCh38
NC_000023.10:g.18622258_18622266del , CM000685.1:g.18622258_18622266del GRCh37
NC_000023.9:g.18532179_18532187del NCBI36
NG_008475.1:g.183534_183542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1214_1222del MANE Select ENSP00000485244.1:p.Leu405_Ser407del
ENST00000635828.1:c.1214_1222del ENSP00000490170.1:p.Leu405_Ser407del
ENST00000637881.1:c.1214_1222del ENSP00000489879.1:p.Leu405_Ser407del
ENST00000674046.1:c.1214_1222del ENSP00000501174.1:p.Leu405_Ser407del
ENST00000379989.6:c.1214_1222del ENSP00000369325.3:p.Leu405_Ser407del
ENST00000379996.7:c.1214_1222del ENSP00000369332.3:p.Leu405_Ser407del
ENST00000463994.4:c.1214_1222del ENSP00000485184.1:p.Leu405_Ser407del
ENST00000623535.1:c.1214_1222del ENSP00000485244.1:p.Leu405_Ser407del
NM_001037343.1:c.1214_1222del NP_001032420.1:p.Leu405_Ser407del
NM_003159.2:c.1214_1222del NP_003150.1:p.Leu405_Ser407del
XM_011545569.1:c.1163_1171del XP_011543871.1:p.Leu388_Ser390del
XM_011545570.1:c.1082_1090del XP_011543872.1:p.Leu361_Ser363del
XR_950484.1:n.1466_1474del
NM_001323289.1:c.1214_1222del NP_001310218.1:p.Leu405_Ser407del
NM_001323289.2:c.1214_1222del MANE Select NP_001310218.1:p.Leu405_Ser407del
NM_001037343.2:c.1214_1222del NP_001032420.1:p.Leu405_Ser407del
NM_003159.3:c.1214_1222del NP_003150.1:p.Leu405_Ser407del
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