Canonical Allele Identifier: CA2573158474
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1350934
ClinVar RCV Id: RCV002042241
dbSNP Id: rs2147160283
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603990dup , CM000685.2:g.18603990dup GRCh38
NC_000023.10:g.18622110dup , CM000685.1:g.18622110dup GRCh37
NC_000023.9:g.18532031dup NCBI36
NG_008475.1:g.183386dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1066dup MANE Select ENSP00000485244.1:p.Ala356GlyfsTer2
ENST00000635828.1:c.1066dup ENSP00000490170.1:p.Ala356GlyfsTer2
ENST00000637881.1:c.1066dup ENSP00000489879.1:p.Ala356GlyfsTer2
ENST00000674046.1:c.1066dup ENSP00000501174.1:p.Ala356GlyfsTer2
ENST00000379989.6:c.1066dup ENSP00000369325.3:p.Ala356GlyfsTer2
ENST00000379996.7:c.1066dup ENSP00000369332.3:p.Ala356GlyfsTer2
ENST00000463994.4:c.1066dup ENSP00000485184.1:p.Ala356GlyfsTer2
ENST00000623535.1:c.1066dup ENSP00000485244.1:p.Ala356GlyfsTer2
NM_001037343.1:c.1066dup NP_001032420.1:p.Ala356GlyfsTer2
NM_003159.2:c.1066dup NP_003150.1:p.Ala356GlyfsTer2
XM_011545569.1:c.1015dup XP_011543871.1:p.Ala339GlyfsTer2
XM_011545570.1:c.934dup XP_011543872.1:p.Ala312GlyfsTer2
XR_950484.1:n.1318dup
NM_001323289.1:c.1066dup NP_001310218.1:p.Ala356GlyfsTer2
NM_001323289.2:c.1066dup MANE Select NP_001310218.1:p.Ala356GlyfsTer2
NM_001037343.2:c.1066dup NP_001032420.1:p.Ala356GlyfsTer2
NM_003159.3:c.1066dup NP_003150.1:p.Ala356GlyfsTer2
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