Canonical Allele Identifier: CA2417977301

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613114_18613115delinsAG , CM000685.2:g.18613114_18613115delinsAG	GRCh38
NC_000023.10:g.18631234_18631235delinsAG , CM000685.1:g.18631234_18631235delinsAG	GRCh37
NC_000023.9:g.18541155_18541156delinsAG	NCBI36
NG_008475.1:g.192510_192511delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153-38_2153-37delinsAG MANE Select	ENSP00000485244.1:n.2153-38_2153-37delinsAG
ENST00000635828.1:c.2153-38_2153-37delinsAG	ENSP00000490170.1:n.2153-38_2153-37delinsAG
ENST00000674046.1:c.2153-38_2153-37delinsAG	ENSP00000501174.1:n.2153-38_2153-37delinsAG
ENST00000379989.6:c.2153-38_2153-37delinsAG	ENSP00000369325.3:n.2153-38_2153-37delinsAG
ENST00000379996.7:c.2153-38_2153-37delinsAG	ENSP00000369332.3:n.2153-38_2153-37delinsAG
ENST00000463994.4:c.2153-38_2153-37delinsAG	ENSP00000485184.1:n.2153-38_2153-37delinsAG
ENST00000623535.1:c.2153-38_2153-37delinsAG	ENSP00000485244.1:n.2153-38_2153-37delinsAG
NM_001037343.1:c.2153-38_2153-37delinsAG	NP_001032420.1:n.2153-38_2153-37delinsAG
NM_003159.2:c.2153-38_2153-37delinsAG	NP_003150.1:n.2153-38_2153-37delinsAG
XM_011545569.1:c.2102-38_2102-37delinsAG	XP_011543871.1:n.2102-38_2102-37delinsAG
XM_011545570.1:c.2021-38_2021-37delinsAG	XP_011543872.1:n.2021-38_2021-37delinsAG
XR_950484.1:n.2405-38_2405-37delinsAG
NM_001323289.1:c.2153-38_2153-37delinsAG	NP_001310218.1:n.2153-38_2153-37delinsAG
NM_001323289.2:c.2153-38_2153-37delinsAG MANE Select	NP_001310218.1:n.2153-38_2153-37delinsAG
NM_001037343.2:c.2153-38_2153-37delinsAG	NP_001032420.1:n.2153-38_2153-37delinsAG
NM_003159.3:c.2153-38_2153-37delinsAG	NP_003150.1:n.2153-38_2153-37delinsAG