Canonical Allele Identifier: CA2693223097

Gene: CDKL5

Linked Data

• gnomAD v4: X-18613109-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613109_18613110insG , CM000685.2:g.18613109_18613110insG	GRCh38
NC_000023.10:g.18631229_18631230insG , CM000685.1:g.18631229_18631230insG	GRCh37
NC_000023.9:g.18541150_18541151insG	NCBI36
NG_008475.1:g.192505_192506insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153-43_2153-42insG MANE Select	ENSP00000485244.1:n.2153-43_2153-42insG
ENST00000635828.1:c.2153-43_2153-42insG	ENSP00000490170.1:n.2153-43_2153-42insG
ENST00000674046.1:c.2153-43_2153-42insG	ENSP00000501174.1:n.2153-43_2153-42insG
ENST00000379989.6:c.2153-43_2153-42insG	ENSP00000369325.3:n.2153-43_2153-42insG
ENST00000379996.7:c.2153-43_2153-42insG	ENSP00000369332.3:n.2153-43_2153-42insG
ENST00000463994.4:c.2153-43_2153-42insG	ENSP00000485184.1:n.2153-43_2153-42insG
ENST00000623535.1:c.2153-43_2153-42insG	ENSP00000485244.1:n.2153-43_2153-42insG
NM_001037343.1:c.2153-43_2153-42insG	NP_001032420.1:n.2153-43_2153-42insG
NM_003159.2:c.2153-43_2153-42insG	NP_003150.1:n.2153-43_2153-42insG
XM_011545569.1:c.2102-43_2102-42insG	XP_011543871.1:n.2102-43_2102-42insG
XM_011545570.1:c.2021-43_2021-42insG	XP_011543872.1:n.2021-43_2021-42insG
XR_950484.1:n.2405-43_2405-42insG
NM_001323289.1:c.2153-43_2153-42insG	NP_001310218.1:n.2153-43_2153-42insG
NM_001323289.2:c.2153-43_2153-42insG MANE Select	NP_001310218.1:n.2153-43_2153-42insG
NM_001037343.2:c.2153-43_2153-42insG	NP_001032420.1:n.2153-43_2153-42insG
NM_003159.3:c.2153-43_2153-42insG	NP_003150.1:n.2153-43_2153-42insG