Canonical Allele Identifier: CA199364

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 189544
• ClinVar RCV Id: RCV000144144 ; RCV000169980
• dbSNP Id: rs267608554
• ExAC: X:18621971 GTGTGTCAGC / G
• gnomAD v2: X-18621971-GTGTGTCAGC-G
• gnomAD v3: X-18603851-GTGTGTCAGC-G
• gnomAD v4: X-18603851-GTGTGTCAGC-G
• MyVariant Identifiers: chrX:g.18621973_18621981del (hg19) ; chrX:g.18621972_18621980del (hg19) ; chrX:g.18603853_18603861del (hg38) ; chrX:g.18603852_18603860del (hg38)
• PubMed: PMID:16611748

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18603853_18603861del , CM000685.2:g.18603853_18603861del	GRCh38
NC_000023.10:g.18621973_18621981del , CM000685.1:g.18621973_18621981del	GRCh37
NC_000023.9:g.18531894_18531902del	NCBI36
NG_008475.1:g.183249_183257del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.978-49_978-41del MANE Select	ENSP00000485244.1:n.978-49_978-41del
ENST00000635828.1:c.978-49_978-41del	ENSP00000490170.1:n.978-49_978-41del
ENST00000637881.1:c.978-49_978-41del	ENSP00000489879.1:n.978-49_978-41del
ENST00000674046.1:c.978-49_978-41del	ENSP00000501174.1:n.978-49_978-41del
ENST00000379989.6:c.978-49_978-41del	ENSP00000369325.3:n.978-49_978-41del
ENST00000379996.7:c.978-49_978-41del	ENSP00000369332.3:n.978-49_978-41del
ENST00000463994.4:c.978-49_978-41del	ENSP00000485184.1:n.978-49_978-41del
ENST00000623535.1:c.978-49_978-41del	ENSP00000485244.1:n.978-49_978-41del
NM_001037343.1:c.978-49_978-41del	NP_001032420.1:n.978-49_978-41del
NM_003159.2:c.978-49_978-41del	NP_003150.1:n.978-49_978-41del
XM_011545569.1:c.927-49_927-41del	XP_011543871.1:n.927-49_927-41del
XM_011545570.1:c.846-49_846-41del	XP_011543872.1:n.846-49_846-41del
XR_950484.1:n.1230-49_1230-41del
NM_001323289.1:c.978-49_978-41del	NP_001310218.1:n.978-49_978-41del
NM_001323289.2:c.978-49_978-41del MANE Select	NP_001310218.1:n.978-49_978-41del
NM_001037343.2:c.978-49_978-41del	NP_001032420.1:n.978-49_978-41del
NM_003159.3:c.978-49_978-41del	NP_003150.1:n.978-49_978-41del