Canonical Allele Identifier: CA10606737

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 290315
• ClinVar RCV Id: RCV000338282
• dbSNP Id: rs886044424
• MyVariant Identifiers: chrX:g.18622409_18622410insA (hg19) ; chrX:g.18604289_18604290insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604289_18604290insA , CM000685.2:g.18604289_18604290insA	GRCh38
NC_000023.10:g.18622409_18622410insA , CM000685.1:g.18622409_18622410insA	GRCh37
NC_000023.9:g.18532330_18532331insA	NCBI36
NG_008475.1:g.183685_183686insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.1365_1366insA MANE Select	ENSP00000485244.1:p.Gly456ArgfsTer7
ENST00000635828.1:c.1365_1366insA	ENSP00000490170.1:p.Gly456ArgfsTer7
ENST00000637881.1:c.1365_1366insA	ENSP00000489879.1:p.Gly456ArgfsTer7
ENST00000674046.1:c.1365_1366insA	ENSP00000501174.1:p.Gly456ArgfsTer7
ENST00000379989.6:c.1365_1366insA	ENSP00000369325.3:p.Gly456ArgfsTer7
ENST00000379996.7:c.1365_1366insA	ENSP00000369332.3:p.Gly456ArgfsTer7
ENST00000463994.4:c.1365_1366insA	ENSP00000485184.1:p.Gly456ArgfsTer7
ENST00000623535.1:c.1365_1366insA	ENSP00000485244.1:p.Gly456ArgfsTer7
NM_001037343.1:c.1365_1366insA	NP_001032420.1:p.Gly456ArgfsTer7
NM_003159.2:c.1365_1366insA	NP_003150.1:p.Gly456ArgfsTer7
XM_011545569.1:c.1314_1315insA	XP_011543871.1:p.Gly439ArgfsTer7
XM_011545570.1:c.1233_1234insA	XP_011543872.1:p.Gly412ArgfsTer7
XR_950484.1:n.1617_1618insA
NM_001323289.1:c.1365_1366insA	NP_001310218.1:p.Gly456ArgfsTer7
NM_001323289.2:c.1365_1366insA MANE Select	NP_001310218.1:p.Gly456ArgfsTer7
NM_001037343.2:c.1365_1366insA	NP_001032420.1:p.Gly456ArgfsTer7
NM_003159.3:c.1365_1366insA	NP_003150.1:p.Gly456ArgfsTer7