Canonical Allele Identifier: CA16043582
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 373904
ClinVar RCV Id: RCV000415357
dbSNP Id: rs1057518759
MyVariant Identifiers: chrX:g.18622515_18622516dupGC (hg19) chrX:g.18604395_18604396dupGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604395_18604396dup , CM000685.2:g.18604395_18604396dup GRCh38
NC_000023.10:g.18622515_18622516dup , CM000685.1:g.18622515_18622516dup GRCh37
NC_000023.9:g.18532436_18532437dup NCBI36
NG_008475.1:g.183791_183792dup

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.1471_1472dup MANE Select ENSP00000485244.1:p.Leu492HisfsTer2
ENST00000635828.1:c.1471_1472dup ENSP00000490170.1:p.Leu492HisfsTer2
ENST00000674046.1:c.1471_1472dup ENSP00000501174.1:p.Leu492HisfsTer2
ENST00000379989.6:c.1471_1472dup ENSP00000369325.3:p.Leu492HisfsTer2
ENST00000379996.7:c.1471_1472dup ENSP00000369332.3:p.Leu492HisfsTer2
ENST00000463994.4:c.1471_1472dup ENSP00000485184.1:p.Leu492HisfsTer2
ENST00000623535.1:c.1471_1472dup ENSP00000485244.1:p.Leu492HisfsTer2
NM_001037343.1:c.1471_1472dup NP_001032420.1:p.Leu492HisfsTer2
NM_003159.2:c.1471_1472dup NP_003150.1:p.Leu492HisfsTer2
XM_011545569.1:c.1420_1421dup XP_011543871.1:p.Leu475HisfsTer2
XM_011545570.1:c.1339_1340dup XP_011543872.1:p.Leu448HisfsTer2
XR_950484.1:n.1723_1724dup
NM_001323289.1:c.1471_1472dup NP_001310218.1:p.Leu492HisfsTer2
NM_001323289.2:c.1471_1472dup MANE Select NP_001310218.1:p.Leu492HisfsTer2
NM_001037343.2:c.1471_1472dup NP_001032420.1:p.Leu492HisfsTer2
NM_003159.3:c.1471_1472dup NP_003150.1:p.Leu492HisfsTer2
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