Canonical Allele Identifier: CA412369153
Gene: CDKL5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18628700C>A , CM000685.2:g.18628700C>A GRCh38
NC_000023.10:g.18646820C>A , CM000685.1:g.18646820C>A GRCh37
NC_000023.9:g.18556741C>A NCBI36
NG_008475.1:g.208096C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2826C>A MANE Select ENSP00000485244.1:p.Asn942Lys
ENST00000674046.1:c.2949C>A ENSP00000501174.1:p.Asn983Lys
ENST00000379989.6:c.2713+113C>A ENSP00000369325.3:n.2713+113C>A
ENST00000379996.7:c.2713+113C>A ENSP00000369332.3:n.2713+113C>A
ENST00000623535.1:c.2826C>A ENSP00000485244.1:p.Asn942Lys
NM_001037343.1:c.2713+113C>A NP_001032420.1:n.2713+113C>A
NM_003159.2:c.2713+113C>A NP_003150.1:n.2713+113C>A
XM_011545569.1:c.2785+113C>A XP_011543871.1:n.2785+113C>A
XM_011545570.1:c.2704+113C>A XP_011543872.1:n.2704+113C>A
XR_950484.1:n.3088+113C>A
NM_001323289.1:c.2826C>A NP_001310218.1:p.Asn942Lys
NM_001323289.2:c.2826C>A MANE Select NP_001310218.1:p.Asn942Lys
NM_001037343.2:c.2713+113C>A NP_001032420.1:n.2713+113C>A
NM_003159.3:c.2713+113C>A NP_003150.1:n.2713+113C>A