Canonical Allele Identifier: CA2573158471
Gene: CDKL5 HGNC NCBI

Linked Data

dbSNP Id: rs2147161013
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604610_18604611insTA , CM000685.2:g.18604610_18604611insTA GRCh38
NC_000023.10:g.18622730_18622731insTA , CM000685.1:g.18622730_18622731insTA GRCh37
NC_000023.9:g.18532651_18532652insTA NCBI36
NG_008475.1:g.184006_184007insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1686_1687insTA MANE Select ENSP00000485244.1:p.Arg563Ter
ENST00000635828.1:c.1686_1687insTA ENSP00000490170.1:p.Arg563Ter
ENST00000674046.1:c.1686_1687insTA ENSP00000501174.1:p.Arg563Ter
ENST00000379989.6:c.1686_1687insTA ENSP00000369325.3:p.Arg563Ter
ENST00000379996.7:c.1686_1687insTA ENSP00000369332.3:p.Arg563Ter
ENST00000463994.4:c.1686_1687insTA ENSP00000485184.1:p.Arg563Ter
ENST00000623535.1:c.1686_1687insTA ENSP00000485244.1:p.Arg563Ter
NM_001037343.1:c.1686_1687insTA NP_001032420.1:p.Arg563Ter
NM_003159.2:c.1686_1687insTA NP_003150.1:p.Arg563Ter
XM_011545569.1:c.1635_1636insTA XP_011543871.1:p.Arg546Ter
XM_011545570.1:c.1554_1555insTA XP_011543872.1:p.Arg519Ter
XR_950484.1:n.1938_1939insTA
NM_001323289.1:c.1686_1687insTA NP_001310218.1:p.Arg563Ter
NM_001323289.2:c.1686_1687insTA MANE Select NP_001310218.1:p.Arg563Ter
NM_001037343.2:c.1686_1687insTA NP_001032420.1:p.Arg563Ter
NM_003159.3:c.1686_1687insTA NP_003150.1:p.Arg563Ter
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