Canonical Allele Identifier: CA10360483

Gene: CDKL5

Linked Data

• dbSNP Id: rs760328051
• ExAC: X:18631230 A / AG
• gnomAD v2: X-18631230-A-AG
• gnomAD v3: X-18613110-A-AG
• gnomAD v4: X-18613110-A-AG
• MyVariant Identifiers: chrX:g.18631230_18631231insG (hg19) ; chrX:g.18613110_18613111insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613110_18613111insG , CM000685.2:g.18613110_18613111insG	GRCh38
NC_000023.10:g.18631230_18631231insG , CM000685.1:g.18631230_18631231insG	GRCh37
NC_000023.9:g.18541151_18541152insG	NCBI36
NG_008475.1:g.192506_192507insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153-42_2153-41insG MANE Select	ENSP00000485244.1:n.2153-42_2153-41insG
ENST00000635828.1:c.2153-42_2153-41insG	ENSP00000490170.1:n.2153-42_2153-41insG
ENST00000674046.1:c.2153-42_2153-41insG	ENSP00000501174.1:n.2153-42_2153-41insG
ENST00000379989.6:c.2153-42_2153-41insG	ENSP00000369325.3:n.2153-42_2153-41insG
ENST00000379996.7:c.2153-42_2153-41insG	ENSP00000369332.3:n.2153-42_2153-41insG
ENST00000463994.4:c.2153-42_2153-41insG	ENSP00000485184.1:n.2153-42_2153-41insG
ENST00000623535.1:c.2153-42_2153-41insG	ENSP00000485244.1:n.2153-42_2153-41insG
NM_001037343.1:c.2153-42_2153-41insG	NP_001032420.1:n.2153-42_2153-41insG
NM_003159.2:c.2153-42_2153-41insG	NP_003150.1:n.2153-42_2153-41insG
XM_011545569.1:c.2102-42_2102-41insG	XP_011543871.1:n.2102-42_2102-41insG
XM_011545570.1:c.2021-42_2021-41insG	XP_011543872.1:n.2021-42_2021-41insG
XR_950484.1:n.2405-42_2405-41insG
NM_001323289.1:c.2153-42_2153-41insG	NP_001310218.1:n.2153-42_2153-41insG
NM_001323289.2:c.2153-42_2153-41insG MANE Select	NP_001310218.1:n.2153-42_2153-41insG
NM_001037343.2:c.2153-42_2153-41insG	NP_001032420.1:n.2153-42_2153-41insG
NM_003159.3:c.2153-42_2153-41insG	NP_003150.1:n.2153-42_2153-41insG