Canonical Allele Identifier: CA2695231348

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613152_18613153delinsCT , CM000685.2:g.18613152_18613153delinsCT	GRCh38
NC_000023.10:g.18631272_18631273delinsCT , CM000685.1:g.18631272_18631273delinsCT	GRCh37
NC_000023.9:g.18541193_18541194delinsCT	NCBI36
NG_008475.1:g.192548_192549delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153_2154delinsCT MANE Select	ENSP00000485244.1:p.Val718Ala
ENST00000635828.1:c.2153_2154delinsCT	ENSP00000490170.1:p.Val718Ala
ENST00000674046.1:c.2153_2154delinsCT	ENSP00000501174.1:p.Val718Ala
ENST00000379989.6:c.2153_2154delinsCT	ENSP00000369325.3:p.Val718Ala
ENST00000379996.7:c.2153_2154delinsCT	ENSP00000369332.3:p.Val718Ala
ENST00000463994.4:c.2153_2154delinsCT	ENSP00000485184.1:p.Val718Ala
ENST00000623535.1:c.2153_2154delinsCT	ENSP00000485244.1:p.Val718Ala
NM_001037343.1:c.2153_2154delinsCT	NP_001032420.1:p.Val718Ala
NM_003159.2:c.2153_2154delinsCT	NP_003150.1:p.Val718Ala
XM_011545569.1:c.2102_2103delinsCT	XP_011543871.1:p.Val701Ala
XM_011545570.1:c.2021_2022delinsCT	XP_011543872.1:p.Val674Ala
XR_950484.1:n.2405_2406delinsCT
NM_001323289.1:c.2153_2154delinsCT	NP_001310218.1:p.Val718Ala
NM_001323289.2:c.2153_2154delinsCT MANE Select	NP_001310218.1:p.Val718Ala
NM_001037343.2:c.2153_2154delinsCT	NP_001032420.1:p.Val718Ala
NM_003159.3:c.2153_2154delinsCT	NP_003150.1:p.Val718Ala