Canonical Allele Identifier: CA2417974420
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604474_18604475delinsTC , CM000685.2:g.18604474_18604475delinsTC GRCh38
NC_000023.10:g.18622594_18622595delinsTC , CM000685.1:g.18622594_18622595delinsTC GRCh37
NC_000023.9:g.18532515_18532516delinsTC NCBI36
NG_008475.1:g.183870_183871delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1550_1551delinsTC MANE Select ENSP00000485244.1:p.Phe517=
ENST00000635828.1:c.1550_1551delinsTC ENSP00000490170.1:p.Phe517=
ENST00000674046.1:c.1550_1551delinsTC ENSP00000501174.1:p.Phe517=
ENST00000379989.6:c.1550_1551delinsTC ENSP00000369325.3:p.Phe517=
ENST00000379996.7:c.1550_1551delinsTC ENSP00000369332.3:p.Phe517=
ENST00000463994.4:c.1550_1551delinsTC ENSP00000485184.1:p.Phe517=
ENST00000623535.1:c.1550_1551delinsTC ENSP00000485244.1:p.Phe517=
NM_001037343.1:c.1550_1551delinsTC NP_001032420.1:p.Phe517=
NM_003159.2:c.1550_1551delinsTC NP_003150.1:p.Phe517=
XM_011545569.1:c.1499_1500delinsTC XP_011543871.1:p.Phe500=
XM_011545570.1:c.1418_1419delinsTC XP_011543872.1:p.Phe473=
XR_950484.1:n.1802_1803delinsTC
NM_001323289.1:c.1550_1551delinsTC NP_001310218.1:p.Phe517=
NM_001323289.2:c.1550_1551delinsTC MANE Select NP_001310218.1:p.Phe517=
NM_001037343.2:c.1550_1551delinsTC NP_001032420.1:p.Phe517=
NM_003159.3:c.1550_1551delinsTC NP_003150.1:p.Phe517=
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