Canonical Allele Identifier: CA2693223152

Gene: CDKL5

Linked Data

• gnomAD v4: X-18613294-T-TTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613295_18613298dup , CM000685.2:g.18613295_18613298dup	GRCh38
NC_000023.10:g.18631415_18631418dup , CM000685.1:g.18631415_18631418dup	GRCh37
NC_000023.9:g.18541336_18541339dup	NCBI36
NG_008475.1:g.192691_192694dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2276+20_2276+23dup MANE Select	ENSP00000485244.1:n.2276+20_2276+23dup
ENST00000635828.1:c.2276+20_2276+23dup	ENSP00000490170.1:n.2276+20_2276+23dup
ENST00000674046.1:c.2276+20_2276+23dup	ENSP00000501174.1:n.2276+20_2276+23dup
ENST00000379989.6:c.2276+20_2276+23dup	ENSP00000369325.3:n.2276+20_2276+23dup
ENST00000379996.7:c.2276+20_2276+23dup	ENSP00000369332.3:n.2276+20_2276+23dup
ENST00000463994.4:c.2276+20_2276+23dup	ENSP00000485184.1:n.2276+20_2276+23dup
ENST00000623535.1:c.2276+20_2276+23dup	ENSP00000485244.1:n.2276+20_2276+23dup
NM_001037343.1:c.2276+20_2276+23dup	NP_001032420.1:n.2276+20_2276+23dup
NM_003159.2:c.2276+20_2276+23dup	NP_003150.1:n.2276+20_2276+23dup
XM_011545569.1:c.2225+20_2225+23dup	XP_011543871.1:n.2225+20_2225+23dup
XM_011545570.1:c.2144+20_2144+23dup	XP_011543872.1:n.2144+20_2144+23dup
XR_950484.1:n.2528+20_2528+23dup
NM_001323289.1:c.2276+20_2276+23dup	NP_001310218.1:n.2276+20_2276+23dup
NM_001323289.2:c.2276+20_2276+23dup MANE Select	NP_001310218.1:n.2276+20_2276+23dup
NM_001037343.2:c.2276+20_2276+23dup	NP_001032420.1:n.2276+20_2276+23dup
NM_003159.3:c.2276+20_2276+23dup	NP_003150.1:n.2276+20_2276+23dup