Canonical Allele Identifier: CA2417974311

Gene: CDKL5

Linked Data

• dbSNP Id: rs1926250740
• gnomAD v4: X-18603828-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18603830_18603831del , CM000685.2:g.18603830_18603831del	GRCh38
NC_000023.10:g.18621950_18621951del , CM000685.1:g.18621950_18621951del	GRCh37
NC_000023.9:g.18531871_18531872del	NCBI36
NG_008475.1:g.183226_183227del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.978-72_978-71del MANE Select	ENSP00000485244.1:n.978-72_978-71del
ENST00000635828.1:c.978-72_978-71del	ENSP00000490170.1:n.978-72_978-71del
ENST00000637881.1:c.978-72_978-71del	ENSP00000489879.1:n.978-72_978-71del
ENST00000674046.1:c.978-72_978-71del	ENSP00000501174.1:n.978-72_978-71del
ENST00000379989.6:c.978-72_978-71del	ENSP00000369325.3:n.978-72_978-71del
ENST00000379996.7:c.978-72_978-71del	ENSP00000369332.3:n.978-72_978-71del
ENST00000463994.4:c.978-72_978-71del	ENSP00000485184.1:n.978-72_978-71del
ENST00000623535.1:c.978-72_978-71del	ENSP00000485244.1:n.978-72_978-71del
NM_001037343.1:c.978-72_978-71del	NP_001032420.1:n.978-72_978-71del
NM_003159.2:c.978-72_978-71del	NP_003150.1:n.978-72_978-71del
XM_011545569.1:c.927-72_927-71del	XP_011543871.1:n.927-72_927-71del
XM_011545570.1:c.846-72_846-71del	XP_011543872.1:n.846-72_846-71del
XR_950484.1:n.1230-72_1230-71del
NM_001323289.1:c.978-72_978-71del	NP_001310218.1:n.978-72_978-71del
NM_001323289.2:c.978-72_978-71del MANE Select	NP_001310218.1:n.978-72_978-71del
NM_001037343.2:c.978-72_978-71del	NP_001032420.1:n.978-72_978-71del
NM_003159.3:c.978-72_978-71del	NP_003150.1:n.978-72_978-71del