Canonical Allele Identifier: CA199385
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 189568
dbSNP Id: rs786204976
gnomAD v4: X-18608913-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18608913G>A , CM000685.2:g.18608913G>A GRCh38
NC_000023.10:g.18627033G>A , CM000685.1:g.18627033G>A GRCh37
NC_000023.9:g.18536954G>A NCBI36
NG_008475.1:g.188309G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2046+1G>A MANE Select ENSP00000485244.1:n.2046+1G>A
ENST00000635828.1:c.2046+1G>A ENSP00000490170.1:n.2046+1G>A
ENST00000674046.1:c.2046+1G>A ENSP00000501174.1:n.2046+1G>A
ENST00000379989.6:c.2046+1G>A ENSP00000369325.3:n.2046+1G>A
ENST00000379996.7:c.2046+1G>A ENSP00000369332.3:n.2046+1G>A
ENST00000463994.4:c.2046+1G>A ENSP00000485184.1:n.2046+1G>A
ENST00000623535.1:c.2046+1G>A ENSP00000485244.1:n.2046+1G>A
NM_001037343.1:c.2046+1G>A NP_001032420.1:n.2046+1G>A
NM_003159.2:c.2046+1G>A NP_003150.1:n.2046+1G>A
XM_011545569.1:c.1995+1G>A XP_011543871.1:n.1995+1G>A
XM_011545570.1:c.1914+1G>A XP_011543872.1:n.1914+1G>A
XR_950484.1:n.2298+1G>A
NM_001323289.1:c.2046+1G>A NP_001310218.1:n.2046+1G>A
NM_001323289.2:c.2046+1G>A MANE Select NP_001310218.1:n.2046+1G>A
NM_001037343.2:c.2046+1G>A NP_001032420.1:n.2046+1G>A
NM_003159.3:c.2046+1G>A NP_003150.1:n.2046+1G>A