Canonical Allele Identifier: CA1131399682

Gene: CDKL5

Linked Data

• dbSNP Id: rs1926846661
• gnomAD v3: X-18620138-G-A
• gnomAD v4: X-18620138-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18620138G>A , CM000685.2:g.18620138G>A	GRCh38
NC_000023.10:g.18638258G>A , CM000685.1:g.18638258G>A	GRCh37
NC_000023.9:g.18548179G>A	NCBI36
NG_008475.1:g.199534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2376+172G>A MANE Select	ENSP00000485244.1:n.2376+172G>A
ENST00000635828.1:c.2376+172G>A	ENSP00000490170.1:n.2376+172G>A
ENST00000674046.1:c.2376+172G>A	ENSP00000501174.1:n.2376+172G>A
ENST00000379989.6:c.2376+172G>A	ENSP00000369325.3:n.2376+172G>A
ENST00000379996.7:c.2376+172G>A	ENSP00000369332.3:n.2376+172G>A
ENST00000623535.1:c.2376+172G>A	ENSP00000485244.1:n.2376+172G>A
NM_001037343.1:c.2376+172G>A	NP_001032420.1:n.2376+172G>A
NM_003159.2:c.2376+172G>A	NP_003150.1:n.2376+172G>A
XM_011545569.1:c.2325+172G>A	XP_011543871.1:n.2325+172G>A
XM_011545570.1:c.2244+172G>A	XP_011543872.1:n.2244+172G>A
XR_950484.1:n.2628+172G>A
NM_001323289.1:c.2376+172G>A	NP_001310218.1:n.2376+172G>A
NM_001323289.2:c.2376+172G>A MANE Select	NP_001310218.1:n.2376+172G>A
NM_001037343.2:c.2376+172G>A	NP_001032420.1:n.2376+172G>A
NM_003159.3:c.2376+172G>A	NP_003150.1:n.2376+172G>A