Canonical Allele Identifier: CA2740092028
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2921376
ClinVar RCV Id: RCV003779463
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604211dup , CM000685.2:g.18604211dup GRCh38
NC_000023.10:g.18622331dup , CM000685.1:g.18622331dup GRCh37
NC_000023.9:g.18532252dup NCBI36
NG_008475.1:g.183607dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1287dup MANE Select ENSP00000485244.1:p.Gly430ArgfsTer?
ENST00000635828.1:c.1287dup ENSP00000490170.1:p.Gly430ArgfsTer?
ENST00000637881.1:c.1287dup ENSP00000489879.1:p.Gly430ArgfsTer?
ENST00000674046.1:c.1287dup ENSP00000501174.1:p.Gly430ArgfsTer?
ENST00000379989.6:c.1287dup ENSP00000369325.3:p.Gly430ArgfsTer?
ENST00000379996.7:c.1287dup ENSP00000369332.3:p.Gly430ArgfsTer?
ENST00000463994.4:c.1287dup ENSP00000485184.1:p.Gly430ArgfsTer?
ENST00000623535.1:c.1287dup ENSP00000485244.1:p.Gly430ArgfsTer?
NM_001037343.1:c.1287dup NP_001032420.1:p.Gly430ArgfsTer?
NM_003159.2:c.1287dup NP_003150.1:p.Gly430ArgfsTer?
XM_011545569.1:c.1236dup XP_011543871.1:p.Gly413ArgfsTer?
XM_011545570.1:c.1155dup XP_011543872.1:p.Gly386ArgfsTer?
XR_950484.1:n.1539dup
NM_001323289.1:c.1287dup NP_001310218.1:p.Gly430ArgfsTer?
NM_001323289.2:c.1287dup MANE Select NP_001310218.1:p.Gly430ArgfsTer?
NM_001037343.2:c.1287dup NP_001032420.1:p.Gly430ArgfsTer?
NM_003159.3:c.1287dup NP_003150.1:p.Gly430ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'