Canonical Allele Identifier: CA2417974494
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604696_18604698delinsCTT , CM000685.2:g.18604696_18604698delinsCTT GRCh38
NC_000023.10:g.18622816_18622818delinsCTT , CM000685.1:g.18622816_18622818delinsCTT GRCh37
NC_000023.9:g.18532737_18532739delinsCTT NCBI36
NG_008475.1:g.184092_184094delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1772_1774delinsCTT MANE Select ENSP00000485244.1:p.Ser591=
ENST00000635828.1:c.1772_1774delinsCTT ENSP00000490170.1:p.Ser591=
ENST00000674046.1:c.1772_1774delinsCTT ENSP00000501174.1:p.Ser591=
ENST00000379989.6:c.1772_1774delinsCTT ENSP00000369325.3:p.Ser591=
ENST00000379996.7:c.1772_1774delinsCTT ENSP00000369332.3:p.Ser591=
ENST00000463994.4:c.1772_1774delinsCTT ENSP00000485184.1:p.Ser591=
ENST00000623535.1:c.1772_1774delinsCTT ENSP00000485244.1:p.Ser591=
NM_001037343.1:c.1772_1774delinsCTT NP_001032420.1:p.Ser591=
NM_003159.2:c.1772_1774delinsCTT NP_003150.1:p.Ser591=
XM_011545569.1:c.1721_1723delinsCTT XP_011543871.1:p.Ser574=
XM_011545570.1:c.1640_1642delinsCTT XP_011543872.1:p.Ser547=
XR_950484.1:n.2024_2026delinsCTT
NM_001323289.1:c.1772_1774delinsCTT NP_001310218.1:p.Ser591=
NM_001323289.2:c.1772_1774delinsCTT MANE Select NP_001310218.1:p.Ser591=
NM_001037343.2:c.1772_1774delinsCTT NP_001032420.1:p.Ser591=
NM_003159.3:c.1772_1774delinsCTT NP_003150.1:p.Ser591=
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