Canonical Allele Identifier: CA2573055198

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1322054
• ClinVar RCV Id: RCV001780474
• dbSNP Id: rs2147179000

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628510del , CM000685.2:g.18628510del	GRCh38
NC_000023.10:g.18646630del , CM000685.1:g.18646630del	GRCh37
NC_000023.9:g.18556551del	NCBI36
NG_008475.1:g.207906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2636del MANE Select	ENSP00000485244.1:p.Leu879ArgfsTer?
ENST00000674046.1:c.2759del	ENSP00000501174.1:p.Leu920ArgfsTer?
ENST00000379989.6:c.2636del	ENSP00000369325.3:p.Leu879ArgfsTer?
ENST00000379996.7:c.2636del	ENSP00000369332.3:p.Leu879ArgfsTer?
ENST00000623535.1:c.2636del	ENSP00000485244.1:p.Leu879ArgfsTer?
NM_001037343.1:c.2636del	NP_001032420.1:p.Leu879ArgfsTer?
NM_003159.2:c.2636del	NP_003150.1:p.Leu879ArgfsTer?
XM_011545569.1:c.2708del	XP_011543871.1:p.Leu903ArgfsTer?
XM_011545570.1:c.2627del	XP_011543872.1:p.Leu876ArgfsTer?
XR_950484.1:n.3011del
NM_001323289.1:c.2636del	NP_001310218.1:p.Leu879ArgfsTer?
NM_001323289.2:c.2636del MANE Select	NP_001310218.1:p.Leu879ArgfsTer?
NM_001037343.2:c.2636del	NP_001032420.1:p.Leu879ArgfsTer?
NM_003159.3:c.2636del	NP_003150.1:p.Leu879ArgfsTer?