Canonical Allele Identifier: CA2693224090

Gene: CDKL5

Linked Data

• gnomAD v4: X-18628736-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628736T>C , CM000685.2:g.18628736T>C	GRCh38
NC_000023.10:g.18646856T>C , CM000685.1:g.18646856T>C	GRCh37
NC_000023.9:g.18556777T>C	NCBI36
NG_008475.1:g.208132T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2862T>C MANE Select	ENSP00000485244.1:p.Asp954=
ENST00000674046.1:c.2985T>C	ENSP00000501174.1:p.Asp995=
ENST00000379989.6:c.2713+149T>C	ENSP00000369325.3:n.2713+149T>C
ENST00000379996.7:c.2713+149T>C	ENSP00000369332.3:n.2713+149T>C
ENST00000623535.1:c.2862T>C	ENSP00000485244.1:p.Asp954=
NM_001037343.1:c.2713+149T>C	NP_001032420.1:n.2713+149T>C
NM_003159.2:c.2713+149T>C	NP_003150.1:n.2713+149T>C
XM_011545569.1:c.2785+149T>C	XP_011543871.1:n.2785+149T>C
XM_011545570.1:c.2704+149T>C	XP_011543872.1:n.2704+149T>C
XR_950484.1:n.3088+149T>C
NM_001323289.1:c.2862T>C	NP_001310218.1:p.Asp954=
NM_001323289.2:c.2862T>C MANE Select	NP_001310218.1:p.Asp954=
NM_001037343.2:c.2713+149T>C	NP_001032420.1:n.2713+149T>C
NM_003159.3:c.2713+149T>C	NP_003150.1:n.2713+149T>C