Canonical Allele Identifier: CA2819902208
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604524_18604525insAACACACCC , CM000685.2:g.18604524_18604525insAACACACCC GRCh38
NC_000023.10:g.18622644_18622645insAACACACCC , CM000685.1:g.18622644_18622645insAACACACCC GRCh37
NC_000023.9:g.18532565_18532566insAACACACCC NCBI36
NG_008475.1:g.183920_183921insAACACACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1600_1601insAACACACCC MANE Select ENSP00000485244.1:p.Thr533_Arg534insLysHisThr
ENST00000635828.1:c.1600_1601insAACACACCC ENSP00000490170.1:p.Thr533_Arg534insLysHisThr
ENST00000674046.1:c.1600_1601insAACACACCC ENSP00000501174.1:p.Thr533_Arg534insLysHisThr
ENST00000379989.6:c.1600_1601insAACACACCC ENSP00000369325.3:p.Thr533_Arg534insLysHisThr
ENST00000379996.7:c.1600_1601insAACACACCC ENSP00000369332.3:p.Thr533_Arg534insLysHisThr
ENST00000463994.4:c.1600_1601insAACACACCC ENSP00000485184.1:p.Thr533_Arg534insLysHisThr
ENST00000623535.1:c.1600_1601insAACACACCC ENSP00000485244.1:p.Thr533_Arg534insLysHisThr
NM_001037343.1:c.1600_1601insAACACACCC NP_001032420.1:p.Thr533_Arg534insLysHisThr
NM_003159.2:c.1600_1601insAACACACCC NP_003150.1:p.Thr533_Arg534insLysHisThr
XM_011545569.1:c.1549_1550insAACACACCC XP_011543871.1:p.Thr516_Arg517insLysHisThr
XM_011545570.1:c.1468_1469insAACACACCC XP_011543872.1:p.Thr489_Arg490insLysHisThr
XR_950484.1:n.1852_1853insAACACACCC
NM_001323289.1:c.1600_1601insAACACACCC NP_001310218.1:p.Thr533_Arg534insLysHisThr
NM_001323289.2:c.1600_1601insAACACACCC MANE Select NP_001310218.1:p.Thr533_Arg534insLysHisThr
NM_001037343.2:c.1600_1601insAACACACCC NP_001032420.1:p.Thr533_Arg534insLysHisThr
NM_003159.3:c.1600_1601insAACACACCC NP_003150.1:p.Thr533_Arg534insLysHisThr
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