Canonical Allele Identifier: CA873683259

Gene: CDKL5

Linked Data

• dbSNP Id: rs1381695731
• gnomAD v4: X-18564399-T-TATAC
• MyVariant Identifiers: chrX:g.18582519_18582520insATAC (hg19) ; chrX:g.18564399_18564400insATAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18564400_18564403dup , CM000685.2:g.18564400_18564403dup	GRCh38
NC_000023.10:g.18582520_18582523dup , CM000685.1:g.18582520_18582523dup	GRCh37
NC_000023.9:g.18492441_18492444dup	NCBI36
NG_008475.1:g.143796_143799dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.100-77_100-74dup MANE Select	ENSP00000485244.1:n.100-77_100-74dup
ENST00000635828.1:c.100-77_100-74dup	ENSP00000490170.1:n.100-77_100-74dup
ENST00000637881.1:c.100-77_100-74dup	ENSP00000489879.1:n.100-77_100-74dup
ENST00000674046.1:c.100-77_100-74dup	ENSP00000501174.1:n.100-77_100-74dup
ENST00000379989.6:c.100-77_100-74dup	ENSP00000369325.3:n.100-77_100-74dup
ENST00000379996.7:c.100-77_100-74dup	ENSP00000369332.3:n.100-77_100-74dup
ENST00000463994.4:c.100-77_100-74dup	ENSP00000485184.1:n.100-77_100-74dup
ENST00000623364.3:c.100-77_100-74dup	ENSP00000485581.1:n.100-77_100-74dup
ENST00000623535.1:c.100-77_100-74dup	ENSP00000485244.1:n.100-77_100-74dup
ENST00000624700.3:c.100-77_100-74dup	ENSP00000485359.1:n.100-77_100-74dup
NM_001037343.1:c.100-77_100-74dup	NP_001032420.1:n.100-77_100-74dup
NM_003159.2:c.100-77_100-74dup	NP_003150.1:n.100-77_100-74dup
XM_011545569.1:c.100-77_100-74dup	XP_011543871.1:n.100-77_100-74dup
XM_011545570.1:c.14-10954_14-10951dup	XP_011543872.1:n.14-10954_14-10951dup
XR_950484.1:n.352-77_352-74dup
NM_001323289.1:c.100-77_100-74dup	NP_001310218.1:n.100-77_100-74dup
NM_001323289.2:c.100-77_100-74dup MANE Select	NP_001310218.1:n.100-77_100-74dup
NM_001037343.2:c.100-77_100-74dup	NP_001032420.1:n.100-77_100-74dup
NM_003159.3:c.100-77_100-74dup	NP_003150.1:n.100-77_100-74dup