Canonical Allele Identifier: CA2417986503

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18642002C= , CM000685.2:g.18642002C= GRCh38
NC_000023.10:g.18660122C= , CM000685.1:g.18660122C= GRCh37
NC_000023.9:g.18570043C= NCBI36
NG_008475.1:g.221398C=
NG_008659.3:g.40447G= , LRG_702:g.40447G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.*2G= (RS1) MANE Select ENSP00000369320.3:n.*2G=
ENST00000379984.3:c.*2G= (RS1) ENSP00000369320.3:n.*2G=
ENST00000379989.6:c.2714-4005C= (CDKL5) ENSP00000369325.3:n.2714-4005C=
ENST00000379996.7:c.2714-4005C= (CDKL5) ENSP00000369332.3:n.2714-4005C=
ENST00000476595.1:n.1168G= (RS1)
NM_000330.3:c.*2G= , LRG_702t1:c.*2G= (RS1) NP_000321.1:n.*2G=
NM_001037343.1:c.2714-4005C= (CDKL5) NP_001032420.1:n.2714-4005C=
NM_003159.2:c.2714-4005C= (CDKL5) NP_003150.1:n.2714-4005C=
XM_011545569.1:c.2786-4005C= (CDKL5) XP_011543871.1:n.2786-4005C=
XM_011545570.1:c.2705-4005C= (CDKL5) XP_011543872.1:n.2705-4005C=
XR_950484.1:n.3089-4005C= (CDKL5)
NM_000330.4:c.*2G= (RS1) MANE Select NP_000321.1:n.*2G=
NM_001037343.2:c.2714-4005C= (CDKL5) NP_001032420.1:n.2714-4005C=
NM_003159.3:c.2714-4005C= (CDKL5) NP_003150.1:n.2714-4005C=