Canonical Allele Identifier: CA2693222664

Gene: CDKL5

Linked Data

• gnomAD v4: X-18603982-TGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18603983_18603986del , CM000685.2:g.18603983_18603986del	GRCh38
NC_000023.10:g.18622103_18622106del , CM000685.1:g.18622103_18622106del	GRCh37
NC_000023.9:g.18532024_18532027del	NCBI36
NG_008475.1:g.183379_183382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1059_1062del MANE Select	ENSP00000485244.1:p.Pro354GlyfsTer13
ENST00000635828.1:c.1059_1062del	ENSP00000490170.1:p.Pro354GlyfsTer13
ENST00000637881.1:c.1059_1062del	ENSP00000489879.1:p.Pro354GlyfsTer13
ENST00000674046.1:c.1059_1062del	ENSP00000501174.1:p.Pro354GlyfsTer13
ENST00000379989.6:c.1059_1062del	ENSP00000369325.3:p.Pro354GlyfsTer13
ENST00000379996.7:c.1059_1062del	ENSP00000369332.3:p.Pro354GlyfsTer13
ENST00000463994.4:c.1059_1062del	ENSP00000485184.1:p.Pro354GlyfsTer13
ENST00000623535.1:c.1059_1062del	ENSP00000485244.1:p.Pro354GlyfsTer13
NM_001037343.1:c.1059_1062del	NP_001032420.1:p.Pro354GlyfsTer13
NM_003159.2:c.1059_1062del	NP_003150.1:p.Pro354GlyfsTer13
XM_011545569.1:c.1008_1011del	XP_011543871.1:p.Pro337GlyfsTer13
XM_011545570.1:c.927_930del	XP_011543872.1:p.Pro310GlyfsTer13
XR_950484.1:n.1311_1314del
NM_001323289.1:c.1059_1062del	NP_001310218.1:p.Pro354GlyfsTer13
NM_001323289.2:c.1059_1062del MANE Select	NP_001310218.1:p.Pro354GlyfsTer13
NM_001037343.2:c.1059_1062del	NP_001032420.1:p.Pro354GlyfsTer13
NM_003159.3:c.1059_1062del	NP_003150.1:p.Pro354GlyfsTer13