Canonical Allele Identifier: CA2580100383

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 2431472
• ClinVar RCV Id: RCV003140526

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598448_18598471del , CM000685.2:g.18598448_18598471del	GRCh38
NC_000023.10:g.18616568_18616591del , CM000685.1:g.18616568_18616591del	GRCh37
NC_000023.9:g.18526489_18526512del	NCBI36
NG_008475.1:g.177844_177867del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.826-14_835del
ENST00000635828.1:c.826-14_835del
ENST00000637881.1:c.826-14_835del
ENST00000674046.1:c.826-14_835del
ENST00000379989.6:c.826-14_835del
ENST00000379996.7:c.826-14_835del
ENST00000463994.4:c.826-14_835del
ENST00000623535.1:c.826-14_835del
NM_001037343.1:c.826-14_835del
NM_003159.2:c.826-14_835del
XM_011545569.1:c.826-14_835del
XM_011545570.1:c.694-14_703del
XR_950484.1:n.1078-14_1087del
NM_001323289.1:c.826-14_835del
NM_001323289.2:c.826-14_835del
NM_001037343.2:c.826-14_835del
NM_003159.3:c.826-14_835del