Canonical Allele Identifier: CA2417986499

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18642001G= , CM000685.2:g.18642001G= GRCh38
NC_000023.10:g.18660121G= , CM000685.1:g.18660121G= GRCh37
NC_000023.9:g.18570042G= NCBI36
NG_008475.1:g.221397G=
NG_008659.3:g.40448C= , LRG_702:g.40448C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.*3C= (RS1) MANE Select ENSP00000369320.3:n.*3C=
ENST00000379984.3:c.*3C= (RS1) ENSP00000369320.3:n.*3C=
ENST00000379989.6:c.2714-4006G= (CDKL5) ENSP00000369325.3:n.2714-4006G=
ENST00000379996.7:c.2714-4006G= (CDKL5) ENSP00000369332.3:n.2714-4006G=
ENST00000476595.1:n.1169C= (RS1)
NM_000330.3:c.*3C= , LRG_702t1:c.*3C= (RS1) NP_000321.1:n.*3C=
NM_001037343.1:c.2714-4006G= (CDKL5) NP_001032420.1:n.2714-4006G=
NM_003159.2:c.2714-4006G= (CDKL5) NP_003150.1:n.2714-4006G=
XM_011545569.1:c.2786-4006G= (CDKL5) XP_011543871.1:n.2786-4006G=
XM_011545570.1:c.2705-4006G= (CDKL5) XP_011543872.1:n.2705-4006G=
XR_950484.1:n.3089-4006G= (CDKL5)
NM_000330.4:c.*3C= (RS1) MANE Select NP_000321.1:n.*3C=
NM_001037343.2:c.2714-4006G= (CDKL5) NP_001032420.1:n.2714-4006G=
NM_003159.3:c.2714-4006G= (CDKL5) NP_003150.1:n.2714-4006G=