Canonical Allele Identifier: CA10360365
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1087069
ClinVar RCV Id: RCV001405029
dbSNP Id: rs759725174
ExAC: X:18622256 CCTT / C
gnomAD v2: X-18622256-CCTT-C
gnomAD v3: X-18604136-CCTT-C
gnomAD v4: X-18604136-CCTT-C
MyVariant Identifiers: chrX:g.18622257_18622259del (hg19) chrX:g.18604138_18604140del (hg38) chrX:g.18604137_18604139del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604140_18604142del , CM000685.2:g.18604140_18604142del GRCh38
NC_000023.10:g.18622260_18622262del , CM000685.1:g.18622260_18622262del GRCh37
NC_000023.9:g.18532181_18532183del NCBI36
NG_008475.1:g.183536_183538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1216_1218del MANE Select ENSP00000485244.1:p.Leu406del
ENST00000635828.1:c.1216_1218del ENSP00000490170.1:p.Leu406del
ENST00000637881.1:c.1216_1218del ENSP00000489879.1:p.Leu406del
ENST00000674046.1:c.1216_1218del ENSP00000501174.1:p.Leu406del
ENST00000379989.6:c.1216_1218del ENSP00000369325.3:p.Leu406del
ENST00000379996.7:c.1216_1218del ENSP00000369332.3:p.Leu406del
ENST00000463994.4:c.1216_1218del ENSP00000485184.1:p.Leu406del
ENST00000623535.1:c.1216_1218del ENSP00000485244.1:p.Leu406del
NM_001037343.1:c.1216_1218del NP_001032420.1:p.Leu406del
NM_003159.2:c.1216_1218del NP_003150.1:p.Leu406del
XM_011545569.1:c.1165_1167del XP_011543871.1:p.Leu389del
XM_011545570.1:c.1084_1086del XP_011543872.1:p.Leu362del
XR_950484.1:n.1468_1470del
NM_001323289.1:c.1216_1218del NP_001310218.1:p.Leu406del
NM_001323289.2:c.1216_1218del MANE Select NP_001310218.1:p.Leu406del
NM_001037343.2:c.1216_1218del NP_001032420.1:p.Leu406del
NM_003159.3:c.1216_1218del NP_003150.1:p.Leu406del
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