Canonical Allele Identifier: CA640515176
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650419_18650421del , CM000685.2:g.18650419_18650421del GRCh38
NC_000023.10:g.18668539_18668541del , CM000685.1:g.18668539_18668541del GRCh37
NC_000023.9:g.18578460_18578462del NCBI36
NG_008475.1:g.229815_229817del
NG_008659.3:g.32030_32032del , LRG_702:g.32030_32032del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3087_185-3085del (RS1) MANE Select ENSP00000369320.3:n.185-3087_185-3085del
ENST00000673617.1:n.79_81del (CDKL5)
ENST00000379984.3:c.185-3087_185-3085del (RS1) ENSP00000369320.3:n.185-3087_185-3085del
ENST00000379989.6:c.2807_2809del (CDKL5) ENSP00000369325.3:p.Phe936del
ENST00000379996.7:c.2807_2809del (CDKL5) ENSP00000369332.3:p.Phe936del
ENST00000476595.1:n.119_121del (RS1)
NM_000330.3:c.185-3087_185-3085del , LRG_702t1:c.185-3087_185-3085del (RS1) NP_000321.1:n.185-3087_185-3085del
NM_001037343.1:c.2807_2809del (CDKL5) NP_001032420.1:p.Phe936del
NM_003159.2:c.2807_2809del (CDKL5) NP_003150.1:p.Phe936del
XM_011545569.1:c.2879_2881del (CDKL5) XP_011543871.1:p.Phe960del
XM_011545570.1:c.2798_2800del (CDKL5) XP_011543872.1:p.Phe933del
XR_950484.1:n.3182_3184del (CDKL5)
NM_000330.4:c.185-3087_185-3085del (RS1) MANE Select NP_000321.1:n.185-3087_185-3085del
NM_001037343.2:c.2807_2809del (CDKL5) NP_001032420.1:p.Phe936del
NM_003159.3:c.2807_2809del (CDKL5) NP_003150.1:p.Phe936del
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