Canonical Allele Identifier: CA1131404669

Gene: CDKL5

Linked Data

• gnomAD v3: X-18598338-C-CTTTTTTT
• gnomAD v4: X-18598338-C-CTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598339_18598340insTTTTTTT , CM000685.2:g.18598339_18598340insTTTTTTT	GRCh38
NC_000023.10:g.18616459_18616460insTTTTTTT , CM000685.1:g.18616459_18616460insTTTTTTT	GRCh37
NC_000023.9:g.18526380_18526381insTTTTTTT	NCBI36
NG_008475.1:g.177735_177736insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.826-123_826-122insTTTTTTT MANE Select	ENSP00000485244.1:n.826-123_826-122insTTTTTTT
ENST00000635828.1:c.826-123_826-122insTTTTTTT	ENSP00000490170.1:n.826-123_826-122insTTTTTTT
ENST00000637881.1:c.826-123_826-122insTTTTTTT	ENSP00000489879.1:n.826-123_826-122insTTTTTTT
ENST00000674046.1:c.826-123_826-122insTTTTTTT	ENSP00000501174.1:n.826-123_826-122insTTTTTTT
ENST00000379989.6:c.826-123_826-122insTTTTTTT	ENSP00000369325.3:n.826-123_826-122insTTTTTTT
ENST00000379996.7:c.826-123_826-122insTTTTTTT	ENSP00000369332.3:n.826-123_826-122insTTTTTTT
ENST00000463994.4:c.826-123_826-122insTTTTTTT	ENSP00000485184.1:n.826-123_826-122insTTTTTTT
ENST00000623535.1:c.826-123_826-122insTTTTTTT	ENSP00000485244.1:n.826-123_826-122insTTTTTTT
NM_001037343.1:c.826-123_826-122insTTTTTTT	NP_001032420.1:n.826-123_826-122insTTTTTTT
NM_003159.2:c.826-123_826-122insTTTTTTT	NP_003150.1:n.826-123_826-122insTTTTTTT
XM_011545569.1:c.826-123_826-122insTTTTTTT	XP_011543871.1:n.826-123_826-122insTTTTTTT
XM_011545570.1:c.694-123_694-122insTTTTTTT	XP_011543872.1:n.694-123_694-122insTTTTTTT
XR_950484.1:n.1078-123_1078-122insTTTTTTT
NM_001323289.1:c.826-123_826-122insTTTTTTT	NP_001310218.1:n.826-123_826-122insTTTTTTT
NM_001323289.2:c.826-123_826-122insTTTTTTT MANE Select	NP_001310218.1:n.826-123_826-122insTTTTTTT
NM_001037343.2:c.826-123_826-122insTTTTTTT	NP_001032420.1:n.826-123_826-122insTTTTTTT
NM_003159.3:c.826-123_826-122insTTTTTTT	NP_003150.1:n.826-123_826-122insTTTTTTT