Canonical Allele Identifier: CA2499226535
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1072660
ClinVar RCV Id: RCV001385428
dbSNP Id: rs2147160237
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603977_18603980dup , CM000685.2:g.18603977_18603980dup GRCh38
NC_000023.10:g.18622097_18622100dup , CM000685.1:g.18622097_18622100dup GRCh37
NC_000023.9:g.18532018_18532021dup NCBI36
NG_008475.1:g.183373_183376dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1053_1056dup MANE Select ENSP00000485244.1:p.Leu353ArgfsTer6
ENST00000635828.1:c.1053_1056dup ENSP00000490170.1:p.Leu353ArgfsTer6
ENST00000637881.1:c.1053_1056dup ENSP00000489879.1:p.Leu353ArgfsTer6
ENST00000674046.1:c.1053_1056dup ENSP00000501174.1:p.Leu353ArgfsTer6
ENST00000379989.6:c.1053_1056dup ENSP00000369325.3:p.Leu353ArgfsTer6
ENST00000379996.7:c.1053_1056dup ENSP00000369332.3:p.Leu353ArgfsTer6
ENST00000463994.4:c.1053_1056dup ENSP00000485184.1:p.Leu353ArgfsTer6
ENST00000623535.1:c.1053_1056dup ENSP00000485244.1:p.Leu353ArgfsTer6
NM_001037343.1:c.1053_1056dup NP_001032420.1:p.Leu353ArgfsTer6
NM_003159.2:c.1053_1056dup NP_003150.1:p.Leu353ArgfsTer6
XM_011545569.1:c.1002_1005dup XP_011543871.1:p.Leu336ArgfsTer6
XM_011545570.1:c.921_924dup XP_011543872.1:p.Leu309ArgfsTer6
XR_950484.1:n.1305_1308dup
NM_001323289.1:c.1053_1056dup NP_001310218.1:p.Leu353ArgfsTer6
NM_001323289.2:c.1053_1056dup MANE Select NP_001310218.1:p.Leu353ArgfsTer6
NM_001037343.2:c.1053_1056dup NP_001032420.1:p.Leu353ArgfsTer6
NM_003159.3:c.1053_1056dup NP_003150.1:p.Leu353ArgfsTer6
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