Canonical Allele Identifier: CA2417989580
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650416_18650419delinsACTT , CM000685.2:g.18650416_18650419delinsACTT GRCh38
NC_000023.10:g.18668536_18668539delinsACTT , CM000685.1:g.18668536_18668539delinsACTT GRCh37
NC_000023.9:g.18578457_18578460delinsACTT NCBI36
NG_008475.1:g.229812_229815delinsACTT
NG_008659.3:g.32030_32033delinsAAGT , LRG_702:g.32030_32033delinsAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3087_185-3084delinsAAGT (RS1) MANE Select ENSP00000369320.3:n.185-3087_185-3084delinsAAGT
ENST00000673617.1:n.76_79delinsACTT (CDKL5)
ENST00000379984.3:c.185-3087_185-3084delinsAAGT (RS1) ENSP00000369320.3:n.185-3087_185-3084delinsAAGT
ENST00000379989.6:c.2804_2807delinsACTT (CDKL5) ENSP00000369325.3:p.Tyr935=
ENST00000379996.7:c.2804_2807delinsACTT (CDKL5) ENSP00000369332.3:p.Tyr935=
ENST00000476595.1:n.119_122delinsAAGT (RS1)
NM_000330.3:c.185-3087_185-3084delinsAAGT , LRG_702t1:c.185-3087_185-3084delinsAAGT (RS1) NP_000321.1:n.185-3087_185-3084delinsAAGT
NM_001037343.1:c.2804_2807delinsACTT (CDKL5) NP_001032420.1:p.Tyr935=
NM_003159.2:c.2804_2807delinsACTT (CDKL5) NP_003150.1:p.Tyr935=
XM_011545569.1:c.2876_2879delinsACTT (CDKL5) XP_011543871.1:p.Tyr959=
XM_011545570.1:c.2795_2798delinsACTT (CDKL5) XP_011543872.1:p.Tyr932=
XR_950484.1:n.3179_3182delinsACTT (CDKL5)
NM_000330.4:c.185-3087_185-3084delinsAAGT (RS1) MANE Select NP_000321.1:n.185-3087_185-3084delinsAAGT
NM_001037343.2:c.2804_2807delinsACTT (CDKL5) NP_001032420.1:p.Tyr935=
NM_003159.3:c.2804_2807delinsACTT (CDKL5) NP_003150.1:p.Tyr935=
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