Canonical Allele Identifier: CA294680

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 156641
• ClinVar RCV Id: RCV000144784
• dbSNP Id: rs587783113
• MyVariant Identifiers: chrX:g.18622389_18622407del (hg19) ; chrX:g.18604269_18604287del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604269_18604287del , CM000685.2:g.18604269_18604287del	GRCh38
NC_000023.10:g.18622389_18622407del , CM000685.1:g.18622389_18622407del	GRCh37
NC_000023.9:g.18532310_18532328del	NCBI36
NG_008475.1:g.183665_183683del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.1345_1363del MANE Select	ENSP00000485244.1:p.Glu449LeufsTer?
ENST00000635828.1:c.1345_1363del	ENSP00000490170.1:p.Glu449LeufsTer?
ENST00000637881.1:c.1345_1363del	ENSP00000489879.1:p.Glu449LeufsTer?
ENST00000674046.1:c.1345_1363del	ENSP00000501174.1:p.Glu449LeufsTer?
ENST00000379989.6:c.1345_1363del	ENSP00000369325.3:p.Glu449LeufsTer?
ENST00000379996.7:c.1345_1363del	ENSP00000369332.3:p.Glu449LeufsTer?
ENST00000463994.4:c.1345_1363del	ENSP00000485184.1:p.Glu449LeufsTer?
ENST00000623535.1:c.1345_1363del	ENSP00000485244.1:p.Glu449LeufsTer?
NM_001037343.1:c.1345_1363del	NP_001032420.1:p.Glu449LeufsTer?
NM_003159.2:c.1345_1363del	NP_003150.1:p.Glu449LeufsTer?
XM_011545569.1:c.1294_1312del	XP_011543871.1:p.Glu432LeufsTer?
XM_011545570.1:c.1213_1231del	XP_011543872.1:p.Glu405LeufsTer?
XR_950484.1:n.1597_1615del
NM_001323289.1:c.1345_1363del	NP_001310218.1:p.Glu449LeufsTer?
NM_001323289.2:c.1345_1363del MANE Select	NP_001310218.1:p.Glu449LeufsTer?
NM_001037343.2:c.1345_1363del	NP_001032420.1:p.Glu449LeufsTer?
NM_003159.3:c.1345_1363del	NP_003150.1:p.Glu449LeufsTer?