Canonical Allele Identifier: CA170506
Gene: CDKL5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143836
ClinVar RCV Id: RCV000133388
dbSNP Id: rs267608537

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18598503dup , CM000685.2:g.18598503dup GRCh38
NC_000023.10:g.18616623dup , CM000685.1:g.18616623dup GRCh37
NC_000023.9:g.18526544dup NCBI36
NG_008475.1:g.177899dup

Transcript Alleles

HGVS Amino-acid change
NM_001037343.1:c.867dup VV NP_001032420.1:p.Gln290ThrfsTer?
NM_003159.2:c.867dup VV NP_003150.1:p.Gln290ThrfsTer?
XM_011545569.1:c.867dup XP_011543871.1:p.Gln290ThrfsTer?
XM_011545570.1:c.735dup XP_011543872.1:p.Gln246ThrfsTer?
XR_950484.1:n.1119dup
NM_001323289.1:c.867dup VV NP_001310218.1:p.Gln290ThrfsTer?
ENST00000379989.6:c.867dup ENSP00000369325.3:p.Gln290ThrfsTer?
ENST00000379996.7:c.867dup ENSP00000369332.3:p.Gln290ThrfsTer?
ENST00000463994.4:c.867dup ENSP00000485184.1:p.Gln290ThrfsTer?
ENST00000623535.1:n.867dup ENSP00000485244.1:p.Gln290ThrfsTer?