Canonical Allele Identifier: CA1139667260

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 870574
• ClinVar RCV Id: RCV001090138
• dbSNP Id: rs1927146242

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628636_18628637del , CM000685.2:g.18628636_18628637del	GRCh38
NC_000023.10:g.18646756_18646757del , CM000685.1:g.18646756_18646757del	GRCh37
NC_000023.9:g.18556677_18556678del	NCBI36
NG_008475.1:g.208032_208033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2762_2763del MANE Select	ENSP00000485244.1:p.Thr921ArgfsTer7
ENST00000674046.1:c.2885_2886del	ENSP00000501174.1:p.Thr962ArgfsTer7
ENST00000379989.6:c.2713+49_2713+50del	ENSP00000369325.3:n.2713+49_2713+50del
ENST00000379996.7:c.2713+49_2713+50del	ENSP00000369332.3:n.2713+49_2713+50del
ENST00000623535.1:c.2762_2763del	ENSP00000485244.1:p.Thr921ArgfsTer7
NM_001037343.1:c.2713+49_2713+50del	NP_001032420.1:n.2713+49_2713+50del
NM_003159.2:c.2713+49_2713+50del	NP_003150.1:n.2713+49_2713+50del
XM_011545569.1:c.2785+49_2785+50del	XP_011543871.1:n.2785+49_2785+50del
XM_011545570.1:c.2704+49_2704+50del	XP_011543872.1:n.2704+49_2704+50del
XR_950484.1:n.3088+49_3088+50del
NM_001323289.1:c.2762_2763del	NP_001310218.1:p.Thr921ArgfsTer7
NM_001323289.2:c.2762_2763del MANE Select	NP_001310218.1:p.Thr921ArgfsTer7
NM_001037343.2:c.2713+49_2713+50del	NP_001032420.1:n.2713+49_2713+50del
NM_003159.3:c.2713+49_2713+50del	NP_003150.1:n.2713+49_2713+50del