Canonical Allele Identifier: CA2740092031

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 2951292
• ClinVar RCV Id: RCV003802554

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604665del , CM000685.2:g.18604665del	GRCh38
NC_000023.10:g.18622785del , CM000685.1:g.18622785del	GRCh37
NC_000023.9:g.18532706del	NCBI36
NG_008475.1:g.184061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1741del MANE Select	ENSP00000485244.1:p.His581IlefsTer?
ENST00000635828.1:c.1741del	ENSP00000490170.1:p.His581IlefsTer?
ENST00000674046.1:c.1741del	ENSP00000501174.1:p.His581IlefsTer?
ENST00000379989.6:c.1741del	ENSP00000369325.3:p.His581IlefsTer?
ENST00000379996.7:c.1741del	ENSP00000369332.3:p.His581IlefsTer?
ENST00000463994.4:c.1741del	ENSP00000485184.1:p.His581IlefsTer?
ENST00000623535.1:c.1741del	ENSP00000485244.1:p.His581IlefsTer?
NM_001037343.1:c.1741del	NP_001032420.1:p.His581IlefsTer?
NM_003159.2:c.1741del	NP_003150.1:p.His581IlefsTer?
XM_011545569.1:c.1690del	XP_011543871.1:p.His564IlefsTer?
XM_011545570.1:c.1609del	XP_011543872.1:p.His537IlefsTer?
XR_950484.1:n.1993del
NM_001323289.1:c.1741del	NP_001310218.1:p.His581IlefsTer?
NM_001323289.2:c.1741del MANE Select	NP_001310218.1:p.His581IlefsTer?
NM_001037343.2:c.1741del	NP_001032420.1:p.His581IlefsTer?
NM_003159.3:c.1741del	NP_003150.1:p.His581IlefsTer?