Canonical Allele Identifier: CA2740092050

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 2941767
• ClinVar RCV Id: RCV003802789

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619945_18619947del , CM000685.2:g.18619945_18619947del	GRCh38
NC_000023.10:g.18638065_18638067del , CM000685.1:g.18638065_18638067del	GRCh37
NC_000023.9:g.18547986_18547988del	NCBI36
NG_008475.1:g.199341_199343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2355_2357del MANE Select	ENSP00000485244.1:p.Lys786del
ENST00000635828.1:c.2355_2357del	ENSP00000490170.1:p.Lys786del
ENST00000674046.1:c.2355_2357del	ENSP00000501174.1:p.Lys786del
ENST00000379989.6:c.2355_2357del	ENSP00000369325.3:p.Lys786del
ENST00000379996.7:c.2355_2357del	ENSP00000369332.3:p.Lys786del
ENST00000623535.1:c.2355_2357del	ENSP00000485244.1:p.Lys786del
NM_001037343.1:c.2355_2357del	NP_001032420.1:p.Lys786del
NM_003159.2:c.2355_2357del	NP_003150.1:p.Lys786del
XM_011545569.1:c.2304_2306del	XP_011543871.1:p.Lys769del
XM_011545570.1:c.2223_2225del	XP_011543872.1:p.Lys742del
XR_950484.1:n.2607_2609del
NM_001323289.1:c.2355_2357del	NP_001310218.1:p.Lys786del
NM_001323289.2:c.2355_2357del MANE Select	NP_001310218.1:p.Lys786del
NM_001037343.2:c.2355_2357del	NP_001032420.1:p.Lys786del
NM_003159.3:c.2355_2357del	NP_003150.1:p.Lys786del