Canonical Allele Identifier: CA2515519719

Gene: CDKL5

Linked Data

• gnomAD v4: X-18598316-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598326_18598327dup , CM000685.2:g.18598326_18598327dup	GRCh38
NC_000023.10:g.18616446_18616447dup , CM000685.1:g.18616446_18616447dup	GRCh37
NC_000023.9:g.18526367_18526368dup	NCBI36
NG_008475.1:g.177722_177723dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.826-136_826-135dup MANE Select	ENSP00000485244.1:n.826-136_826-135dup
ENST00000635828.1:c.826-136_826-135dup	ENSP00000490170.1:n.826-136_826-135dup
ENST00000637881.1:c.826-136_826-135dup	ENSP00000489879.1:n.826-136_826-135dup
ENST00000674046.1:c.826-136_826-135dup	ENSP00000501174.1:n.826-136_826-135dup
ENST00000379989.6:c.826-136_826-135dup	ENSP00000369325.3:n.826-136_826-135dup
ENST00000379996.7:c.826-136_826-135dup	ENSP00000369332.3:n.826-136_826-135dup
ENST00000463994.4:c.826-136_826-135dup	ENSP00000485184.1:n.826-136_826-135dup
ENST00000623535.1:c.826-136_826-135dup	ENSP00000485244.1:n.826-136_826-135dup
NM_001037343.1:c.826-136_826-135dup	NP_001032420.1:n.826-136_826-135dup
NM_003159.2:c.826-136_826-135dup	NP_003150.1:n.826-136_826-135dup
XM_011545569.1:c.826-136_826-135dup	XP_011543871.1:n.826-136_826-135dup
XM_011545570.1:c.694-136_694-135dup	XP_011543872.1:n.694-136_694-135dup
XR_950484.1:n.1078-136_1078-135dup
NM_001323289.1:c.826-136_826-135dup	NP_001310218.1:n.826-136_826-135dup
NM_001323289.2:c.826-136_826-135dup MANE Select	NP_001310218.1:n.826-136_826-135dup
NM_001037343.2:c.826-136_826-135dup	NP_001032420.1:n.826-136_826-135dup
NM_003159.3:c.826-136_826-135dup	NP_003150.1:n.826-136_826-135dup