Canonical Allele Identifier: CA10360486

Gene: CDKL5

Linked Data

• dbSNP Id: rs372573996
• ExAC: X:18631232 AAAG / A
• gnomAD v2: X-18631232-AAAG-A
• gnomAD v4: X-18613112-AAAG-A
• MyVariant Identifiers: chrX:g.18631233_18631235del (hg19) ; chrX:g.18613113_18613115del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613115_18613117del , CM000685.2:g.18613115_18613117del	GRCh38
NC_000023.10:g.18631235_18631237del , CM000685.1:g.18631235_18631237del	GRCh37
NC_000023.9:g.18541156_18541158del	NCBI36
NG_008475.1:g.192511_192513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153-37_2153-35del MANE Select	ENSP00000485244.1:n.2153-37_2153-35del
ENST00000635828.1:c.2153-37_2153-35del	ENSP00000490170.1:n.2153-37_2153-35del
ENST00000674046.1:c.2153-37_2153-35del	ENSP00000501174.1:n.2153-37_2153-35del
ENST00000379989.6:c.2153-37_2153-35del	ENSP00000369325.3:n.2153-37_2153-35del
ENST00000379996.7:c.2153-37_2153-35del	ENSP00000369332.3:n.2153-37_2153-35del
ENST00000463994.4:c.2153-37_2153-35del	ENSP00000485184.1:n.2153-37_2153-35del
ENST00000623535.1:c.2153-37_2153-35del	ENSP00000485244.1:n.2153-37_2153-35del
NM_001037343.1:c.2153-37_2153-35del	NP_001032420.1:n.2153-37_2153-35del
NM_003159.2:c.2153-37_2153-35del	NP_003150.1:n.2153-37_2153-35del
XM_011545569.1:c.2102-37_2102-35del	XP_011543871.1:n.2102-37_2102-35del
XM_011545570.1:c.2021-37_2021-35del	XP_011543872.1:n.2021-37_2021-35del
XR_950484.1:n.2405-37_2405-35del
NM_001323289.1:c.2153-37_2153-35del	NP_001310218.1:n.2153-37_2153-35del
NM_001323289.2:c.2153-37_2153-35del MANE Select	NP_001310218.1:n.2153-37_2153-35del
NM_001037343.2:c.2153-37_2153-35del	NP_001032420.1:n.2153-37_2153-35del
NM_003159.3:c.2153-37_2153-35del	NP_003150.1:n.2153-37_2153-35del