Canonical Allele Identifier: CA2417977298

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613113_18613115delinsAAG , CM000685.2:g.18613113_18613115delinsAAG	GRCh38
NC_000023.10:g.18631233_18631235delinsAAG , CM000685.1:g.18631233_18631235delinsAAG	GRCh37
NC_000023.9:g.18541154_18541156delinsAAG	NCBI36
NG_008475.1:g.192509_192511delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153-39_2153-37delinsAAG MANE Select	ENSP00000485244.1:n.2153-39_2153-37delinsAAG
ENST00000635828.1:c.2153-39_2153-37delinsAAG	ENSP00000490170.1:n.2153-39_2153-37delinsAAG
ENST00000674046.1:c.2153-39_2153-37delinsAAG	ENSP00000501174.1:n.2153-39_2153-37delinsAAG
ENST00000379989.6:c.2153-39_2153-37delinsAAG	ENSP00000369325.3:n.2153-39_2153-37delinsAAG
ENST00000379996.7:c.2153-39_2153-37delinsAAG	ENSP00000369332.3:n.2153-39_2153-37delinsAAG
ENST00000463994.4:c.2153-39_2153-37delinsAAG	ENSP00000485184.1:n.2153-39_2153-37delinsAAG
ENST00000623535.1:c.2153-39_2153-37delinsAAG	ENSP00000485244.1:n.2153-39_2153-37delinsAAG
NM_001037343.1:c.2153-39_2153-37delinsAAG	NP_001032420.1:n.2153-39_2153-37delinsAAG
NM_003159.2:c.2153-39_2153-37delinsAAG	NP_003150.1:n.2153-39_2153-37delinsAAG
XM_011545569.1:c.2102-39_2102-37delinsAAG	XP_011543871.1:n.2102-39_2102-37delinsAAG
XM_011545570.1:c.2021-39_2021-37delinsAAG	XP_011543872.1:n.2021-39_2021-37delinsAAG
XR_950484.1:n.2405-39_2405-37delinsAAG
NM_001323289.1:c.2153-39_2153-37delinsAAG	NP_001310218.1:n.2153-39_2153-37delinsAAG
NM_001323289.2:c.2153-39_2153-37delinsAAG MANE Select	NP_001310218.1:n.2153-39_2153-37delinsAAG
NM_001037343.2:c.2153-39_2153-37delinsAAG	NP_001032420.1:n.2153-39_2153-37delinsAAG
NM_003159.3:c.2153-39_2153-37delinsAAG	NP_003150.1:n.2153-39_2153-37delinsAAG