Canonical Allele Identifier: CA2954823517

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650401A>T , CM000685.2:g.18650401A>T GRCh38
NC_000023.10:g.18668521A>T , CM000685.1:g.18668521A>T GRCh37
NC_000023.9:g.18578442A>T NCBI36
NG_008475.1:g.229797A>T
NG_008659.3:g.32048T>A , LRG_702:g.32048T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3069T>A (RS1) MANE Select ENSP00000369320.3:n.185-3069T>A
ENST00000673617.1:n.70-9A>T (CDKL5)
ENST00000379984.3:c.185-3069T>A (RS1) ENSP00000369320.3:n.185-3069T>A
ENST00000379989.6:c.2798-9A>T (CDKL5) ENSP00000369325.3:n.2798-9A>T
ENST00000379996.7:c.2798-9A>T (CDKL5) ENSP00000369332.3:n.2798-9A>T
ENST00000476595.1:n.137T>A (RS1)
NM_000330.3:c.185-3069T>A , LRG_702t1:c.185-3069T>A (RS1) NP_000321.1:n.185-3069T>A
NM_001037343.1:c.2798-9A>T (CDKL5) NP_001032420.1:n.2798-9A>T
NM_003159.2:c.2798-9A>T (CDKL5) NP_003150.1:n.2798-9A>T
XM_011545569.1:c.2870-9A>T (CDKL5) XP_011543871.1:n.2870-9A>T
XM_011545570.1:c.2789-9A>T (CDKL5) XP_011543872.1:n.2789-9A>T
XR_950484.1:n.3173-9A>T (CDKL5)
NM_000330.4:c.185-3069T>A (RS1) MANE Select NP_000321.1:n.185-3069T>A
NM_001037343.2:c.2798-9A>T (CDKL5) NP_001032420.1:n.2798-9A>T
NM_003159.3:c.2798-9A>T (CDKL5) NP_003150.1:n.2798-9A>T