Canonical Allele Identifier: CA10360524

Gene: CDKL5

Linked Data

• dbSNP Id: rs771385197
• ExAC: X:18637945 ATGAT / A
• MyVariant Identifiers: chrX:g.18637946_18637949del (hg19) ; chrX:g.18619826_18619829del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619829_18619832del , CM000685.2:g.18619829_18619832del	GRCh38
NC_000023.10:g.18637949_18637952del , CM000685.1:g.18637949_18637952del	GRCh37
NC_000023.9:g.18547870_18547873del	NCBI36
NG_008475.1:g.199225_199228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2277-38_2277-35del MANE Select	ENSP00000485244.1:n.2277-38_2277-35del
ENST00000635828.1:c.2277-38_2277-35del	ENSP00000490170.1:n.2277-38_2277-35del
ENST00000674046.1:c.2277-38_2277-35del	ENSP00000501174.1:n.2277-38_2277-35del
ENST00000379989.6:c.2277-38_2277-35del	ENSP00000369325.3:n.2277-38_2277-35del
ENST00000379996.7:c.2277-38_2277-35del	ENSP00000369332.3:n.2277-38_2277-35del
ENST00000463994.4:c.2277-38_2277-35del	ENSP00000485184.1:n.2277-38_2277-35del
ENST00000623535.1:c.2277-38_2277-35del	ENSP00000485244.1:n.2277-38_2277-35del
NM_001037343.1:c.2277-38_2277-35del	NP_001032420.1:n.2277-38_2277-35del
NM_003159.2:c.2277-38_2277-35del	NP_003150.1:n.2277-38_2277-35del
XM_011545569.1:c.2226-38_2226-35del	XP_011543871.1:n.2226-38_2226-35del
XM_011545570.1:c.2145-38_2145-35del	XP_011543872.1:n.2145-38_2145-35del
XR_950484.1:n.2529-38_2529-35del
NM_001323289.1:c.2277-38_2277-35del	NP_001310218.1:n.2277-38_2277-35del
NM_001323289.2:c.2277-38_2277-35del MANE Select	NP_001310218.1:n.2277-38_2277-35del
NM_001037343.2:c.2277-38_2277-35del	NP_001032420.1:n.2277-38_2277-35del
NM_003159.3:c.2277-38_2277-35del	NP_003150.1:n.2277-38_2277-35del