Canonical Allele Identifier: CA645294127
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650410_18650412del , CM000685.2:g.18650410_18650412del GRCh38
NC_000023.10:g.18668530_18668532del , CM000685.1:g.18668530_18668532del GRCh37
NC_000023.9:g.18578451_18578453del NCBI36
NG_008475.1:g.229806_229808del
NG_008659.3:g.32039_32041del , LRG_702:g.32039_32041del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3078_185-3076del (RS1) MANE Select ENSP00000369320.3:n.185-3078_185-3076del
ENST00000673617.1:n.70_72del (CDKL5)
ENST00000379984.3:c.185-3078_185-3076del (RS1) ENSP00000369320.3:n.185-3078_185-3076del
ENST00000379989.6:c.2798_2800del (CDKL5)
ENST00000379996.7:c.2798_2800del (CDKL5)
ENST00000476595.1:n.128_130del (RS1)
NM_000330.3:c.185-3078_185-3076del , LRG_702t1:c.185-3078_185-3076del (RS1) NP_000321.1:n.185-3078_185-3076del
NM_001037343.1:c.2798_2800del (CDKL5)
NM_003159.2:c.2798_2800del (CDKL5)
XM_011545569.1:c.2870_2872del (CDKL5)
XM_011545570.1:c.2789_2791del (CDKL5)
XR_950484.1:n.3173_3175del (CDKL5)
NM_000330.4:c.185-3078_185-3076del (RS1) MANE Select NP_000321.1:n.185-3078_185-3076del
NM_001037343.2:c.2798_2800del (CDKL5)
NM_003159.3:c.2798_2800del (CDKL5)
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