Canonical Allele Identifier: CA916083854

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 870173
• ClinVar RCV Id: RCV001089708
• dbSNP Id: rs1925573011

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18584294dup , CM000685.2:g.18584294dup	GRCh38
NC_000023.10:g.18602414dup , CM000685.1:g.18602414dup	GRCh37
NC_000023.9:g.18512335dup	NCBI36
NG_008475.1:g.163690dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.495dup MANE Select	ENSP00000485244.1:p.Ala166CysfsTer2
ENST00000635828.1:c.495dup	ENSP00000490170.1:p.Ala166CysfsTer2
ENST00000637881.1:c.495dup	ENSP00000489879.1:p.Ala166CysfsTer2
ENST00000674046.1:c.495dup	ENSP00000501174.1:p.Ala166CysfsTer2
ENST00000379989.6:c.495dup	ENSP00000369325.3:p.Ala166CysfsTer2
ENST00000379996.7:c.495dup	ENSP00000369332.3:p.Ala166CysfsTer2
ENST00000463994.4:c.495dup	ENSP00000485184.1:p.Ala166CysfsTer2
ENST00000623535.1:c.495dup	ENSP00000485244.1:p.Ala166CysfsTer2
NM_001037343.1:c.495dup	NP_001032420.1:p.Ala166CysfsTer2
NM_003159.2:c.495dup	NP_003150.1:p.Ala166CysfsTer2
XM_011545569.1:c.495dup	XP_011543871.1:p.Ala166CysfsTer2
XM_011545570.1:c.363dup	XP_011543872.1:p.Ala122CysfsTer2
XR_950484.1:n.747dup
NM_001323289.1:c.495dup	NP_001310218.1:p.Ala166CysfsTer2
NM_001323289.2:c.495dup MANE Select	NP_001310218.1:p.Ala166CysfsTer2
NM_001037343.2:c.495dup	NP_001032420.1:p.Ala166CysfsTer2
NM_003159.3:c.495dup	NP_003150.1:p.Ala166CysfsTer2