Canonical Allele Identifier: CA1139667242
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 988540
ClinVar RCV Id: RCV001269959
dbSNP Id: rs1926255341
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603932del , CM000685.2:g.18603932del GRCh38
NC_000023.10:g.18622052del , CM000685.1:g.18622052del GRCh37
NC_000023.9:g.18531973del NCBI36
NG_008475.1:g.183328del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1008del MANE Select ENSP00000485244.1:p.Gln336HisfsTer14
ENST00000635828.1:c.1008del ENSP00000490170.1:p.Gln336HisfsTer14
ENST00000637881.1:c.1008del ENSP00000489879.1:p.Gln336HisfsTer14
ENST00000674046.1:c.1008del ENSP00000501174.1:p.Gln336HisfsTer14
ENST00000379989.6:c.1008del ENSP00000369325.3:p.Gln336HisfsTer14
ENST00000379996.7:c.1008del ENSP00000369332.3:p.Gln336HisfsTer14
ENST00000463994.4:c.1008del ENSP00000485184.1:p.Gln336HisfsTer14
ENST00000623535.1:c.1008del ENSP00000485244.1:p.Gln336HisfsTer14
NM_001037343.1:c.1008del NP_001032420.1:p.Gln336HisfsTer14
NM_003159.2:c.1008del NP_003150.1:p.Gln336HisfsTer14
XM_011545569.1:c.957del XP_011543871.1:p.Gln319HisfsTer14
XM_011545570.1:c.876del XP_011543872.1:p.Gln292HisfsTer14
XR_950484.1:n.1260del
NM_001323289.1:c.1008del NP_001310218.1:p.Gln336HisfsTer14
NM_001323289.2:c.1008del MANE Select NP_001310218.1:p.Gln336HisfsTer14
NM_001037343.2:c.1008del NP_001032420.1:p.Gln336HisfsTer14
NM_003159.3:c.1008del NP_003150.1:p.Gln336HisfsTer14
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