Canonical Allele Identifier: CA3029067673
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650407C>A , CM000685.2:g.18650407C>A GRCh38
NC_000023.10:g.18668527C>A , CM000685.1:g.18668527C>A GRCh37
NC_000023.9:g.18578448C>A NCBI36
NG_008475.1:g.229803C>A
NG_008659.3:g.32042G>T , LRG_702:g.32042G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3075G>T (RS1) MANE Select ENSP00000369320.3:n.185-3075G>T
ENST00000673617.1:n.70-3C>A (CDKL5)
ENST00000379984.3:c.185-3075G>T (RS1) ENSP00000369320.3:n.185-3075G>T
ENST00000379989.6:c.2798-3C>A (CDKL5) ENSP00000369325.3:n.2798-3C>A
ENST00000379996.7:c.2798-3C>A (CDKL5) ENSP00000369332.3:n.2798-3C>A
ENST00000476595.1:n.131G>T (RS1)
NM_000330.3:c.185-3075G>T , LRG_702t1:c.185-3075G>T (RS1) NP_000321.1:n.185-3075G>T
NM_001037343.1:c.2798-3C>A (CDKL5) NP_001032420.1:n.2798-3C>A
NM_003159.2:c.2798-3C>A (CDKL5) NP_003150.1:n.2798-3C>A
XM_011545569.1:c.2870-3C>A (CDKL5) XP_011543871.1:n.2870-3C>A
XM_011545570.1:c.2789-3C>A (CDKL5) XP_011543872.1:n.2789-3C>A
XR_950484.1:n.3173-3C>A (CDKL5)
NM_000330.4:c.185-3075G>T (RS1) MANE Select NP_000321.1:n.185-3075G>T
NM_001037343.2:c.2798-3C>A (CDKL5) NP_001032420.1:n.2798-3C>A
NM_003159.3:c.2798-3C>A (CDKL5) NP_003150.1:n.2798-3C>A
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