Canonical Allele Identifier: CA640513689

Gene: CDKL5

Linked Data

• dbSNP Id: rs1234915333
• gnomAD v2: X-18631238-A-AAAG
• MyVariant Identifiers: chrX:g.18631238_18631239insAAG (hg19) ; chrX:g.18613118_18613119insAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613119_18613120insAGA , CM000685.2:g.18613119_18613120insAGA	GRCh38
NC_000023.10:g.18631239_18631240insAGA , CM000685.1:g.18631239_18631240insAGA	GRCh37
NC_000023.9:g.18541160_18541161insAGA	NCBI36
NG_008475.1:g.192515_192516insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153-33_2153-32insAGA MANE Select	ENSP00000485244.1:n.2153-33_2153-32insAGA
ENST00000635828.1:c.2153-33_2153-32insAGA	ENSP00000490170.1:n.2153-33_2153-32insAGA
ENST00000674046.1:c.2153-33_2153-32insAGA	ENSP00000501174.1:n.2153-33_2153-32insAGA
ENST00000379989.6:c.2153-33_2153-32insAGA	ENSP00000369325.3:n.2153-33_2153-32insAGA
ENST00000379996.7:c.2153-33_2153-32insAGA	ENSP00000369332.3:n.2153-33_2153-32insAGA
ENST00000463994.4:c.2153-33_2153-32insAGA	ENSP00000485184.1:n.2153-33_2153-32insAGA
ENST00000623535.1:c.2153-33_2153-32insAGA	ENSP00000485244.1:n.2153-33_2153-32insAGA
NM_001037343.1:c.2153-33_2153-32insAGA	NP_001032420.1:n.2153-33_2153-32insAGA
NM_003159.2:c.2153-33_2153-32insAGA	NP_003150.1:n.2153-33_2153-32insAGA
XM_011545569.1:c.2102-33_2102-32insAGA	XP_011543871.1:n.2102-33_2102-32insAGA
XM_011545570.1:c.2021-33_2021-32insAGA	XP_011543872.1:n.2021-33_2021-32insAGA
XR_950484.1:n.2405-33_2405-32insAGA
NM_001323289.1:c.2153-33_2153-32insAGA	NP_001310218.1:n.2153-33_2153-32insAGA
NM_001323289.2:c.2153-33_2153-32insAGA MANE Select	NP_001310218.1:n.2153-33_2153-32insAGA
NM_001037343.2:c.2153-33_2153-32insAGA	NP_001032420.1:n.2153-33_2153-32insAGA
NM_003159.3:c.2153-33_2153-32insAGA	NP_003150.1:n.2153-33_2153-32insAGA