Canonical Allele Identifier: CA873671711

Gene: CDKL5

Linked Data

• dbSNP Id: rs1338481212
• gnomAD v3: X-18613478-G-GA
• gnomAD v4: X-18613478-G-GA
• MyVariant Identifiers: chrX:g.18631598_18631599insA (hg19) ; chrX:g.18613478_18613479insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613486dup , CM000685.2:g.18613486dup	GRCh38
NC_000023.10:g.18631606dup , CM000685.1:g.18631606dup	GRCh37
NC_000023.9:g.18541527dup	NCBI36
NG_008475.1:g.192882dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2276+211dup MANE Select	ENSP00000485244.1:n.2276+211dup
ENST00000635828.1:c.2276+211dup	ENSP00000490170.1:n.2276+211dup
ENST00000674046.1:c.2276+211dup	ENSP00000501174.1:n.2276+211dup
ENST00000379989.6:c.2276+211dup	ENSP00000369325.3:n.2276+211dup
ENST00000379996.7:c.2276+211dup	ENSP00000369332.3:n.2276+211dup
ENST00000463994.4:c.2276+211dup	ENSP00000485184.1:n.2276+211dup
ENST00000623535.1:c.2276+211dup	ENSP00000485244.1:n.2276+211dup
NM_001037343.1:c.2276+211dup	NP_001032420.1:n.2276+211dup
NM_003159.2:c.2276+211dup	NP_003150.1:n.2276+211dup
XM_011545569.1:c.2225+211dup	XP_011543871.1:n.2225+211dup
XM_011545570.1:c.2144+211dup	XP_011543872.1:n.2144+211dup
XR_950484.1:n.2528+211dup
NM_001323289.1:c.2276+211dup	NP_001310218.1:n.2276+211dup
NM_001323289.2:c.2276+211dup MANE Select	NP_001310218.1:n.2276+211dup
NM_001037343.2:c.2276+211dup	NP_001032420.1:n.2276+211dup
NM_003159.3:c.2276+211dup	NP_003150.1:n.2276+211dup