Canonical Allele Identifier: CA294683

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 156645
• ClinVar RCV Id: RCV000144788
• dbSNP Id: rs587783117
• MyVariant Identifiers: chrX:g.18622929_18622930dupTT (hg19) ; chrX:g.18604809_18604810dupTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604809_18604810dup , CM000685.2:g.18604809_18604810dup	GRCh38
NC_000023.10:g.18622929_18622930dup , CM000685.1:g.18622929_18622930dup	GRCh37
NC_000023.9:g.18532850_18532851dup	NCBI36
NG_008475.1:g.184205_184206dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1885_1886dup MANE Select	ENSP00000485244.1:p.Leu629PhefsTer2
ENST00000635828.1:c.1885_1886dup	ENSP00000490170.1:p.Leu629PhefsTer2
ENST00000674046.1:c.1885_1886dup	ENSP00000501174.1:p.Leu629PhefsTer2
ENST00000379989.6:c.1885_1886dup	ENSP00000369325.3:p.Leu629PhefsTer2
ENST00000379996.7:c.1885_1886dup	ENSP00000369332.3:p.Leu629PhefsTer2
ENST00000463994.4:c.1885_1886dup	ENSP00000485184.1:p.Leu629PhefsTer2
ENST00000623535.1:c.1885_1886dup	ENSP00000485244.1:p.Leu629PhefsTer2
NM_001037343.1:c.1885_1886dup	NP_001032420.1:p.Leu629PhefsTer2
NM_003159.2:c.1885_1886dup	NP_003150.1:p.Leu629PhefsTer2
XM_011545569.1:c.1834_1835dup	XP_011543871.1:p.Leu612PhefsTer2
XM_011545570.1:c.1753_1754dup	XP_011543872.1:p.Leu585PhefsTer2
XR_950484.1:n.2137_2138dup
NM_001323289.1:c.1885_1886dup	NP_001310218.1:p.Leu629PhefsTer2
NM_001323289.2:c.1885_1886dup MANE Select	NP_001310218.1:p.Leu629PhefsTer2
NM_001037343.2:c.1885_1886dup	NP_001032420.1:p.Leu629PhefsTer2
NM_003159.3:c.1885_1886dup	NP_003150.1:p.Leu629PhefsTer2