Canonical Allele Identifier: CA1139667249

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 971254
• ClinVar RCV Id: RCV001246995
• dbSNP Id: rs1926607521

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613088_18613147delinsG , CM000685.2:g.18613088_18613147delinsG	GRCh38
NC_000023.10:g.18631208_18631267delinsG , CM000685.1:g.18631208_18631267delinsG	GRCh37
NC_000023.9:g.18541129_18541188delinsG	NCBI36
NG_008475.1:g.192484_192543delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153-64_2153-5delinsG MANE Select	ENSP00000485244.1:n.2153-64_2153-5delinsG
ENST00000635828.1:c.2153-64_2153-5delinsG	ENSP00000490170.1:n.2153-64_2153-5delinsG
ENST00000674046.1:c.2153-64_2153-5delinsG	ENSP00000501174.1:n.2153-64_2153-5delinsG
ENST00000379989.6:c.2153-64_2153-5delinsG	ENSP00000369325.3:n.2153-64_2153-5delinsG
ENST00000379996.7:c.2153-64_2153-5delinsG	ENSP00000369332.3:n.2153-64_2153-5delinsG
ENST00000463994.4:c.2153-64_2153-5delinsG	ENSP00000485184.1:n.2153-64_2153-5delinsG
ENST00000623535.1:c.2153-64_2153-5delinsG	ENSP00000485244.1:n.2153-64_2153-5delinsG
NM_001037343.1:c.2153-64_2153-5delinsG	NP_001032420.1:n.2153-64_2153-5delinsG
NM_003159.2:c.2153-64_2153-5delinsG	NP_003150.1:n.2153-64_2153-5delinsG
XM_011545569.1:c.2102-64_2102-5delinsG	XP_011543871.1:n.2102-64_2102-5delinsG
XM_011545570.1:c.2021-64_2021-5delinsG	XP_011543872.1:n.2021-64_2021-5delinsG
XR_950484.1:n.2405-64_2405-5delinsG
NM_001323289.1:c.2153-64_2153-5delinsG	NP_001310218.1:n.2153-64_2153-5delinsG
NM_001323289.2:c.2153-64_2153-5delinsG MANE Select	NP_001310218.1:n.2153-64_2153-5delinsG
NM_001037343.2:c.2153-64_2153-5delinsG	NP_001032420.1:n.2153-64_2153-5delinsG
NM_003159.3:c.2153-64_2153-5delinsG	NP_003150.1:n.2153-64_2153-5delinsG