Canonical Allele Identifier: CA2417982200

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628508_18628510delinsCCT , CM000685.2:g.18628508_18628510delinsCCT	GRCh38
NC_000023.10:g.18646628_18646630delinsCCT , CM000685.1:g.18646628_18646630delinsCCT	GRCh37
NC_000023.9:g.18556549_18556551delinsCCT	NCBI36
NG_008475.1:g.207904_207906delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2634_2636delinsCCT MANE Select	ENSP00000485244.1:p.Pro878=
ENST00000674046.1:c.2757_2759delinsCCT	ENSP00000501174.1:p.Pro919=
ENST00000379989.6:c.2634_2636delinsCCT	ENSP00000369325.3:p.Pro878=
ENST00000379996.7:c.2634_2636delinsCCT	ENSP00000369332.3:p.Pro878=
ENST00000623535.1:c.2634_2636delinsCCT	ENSP00000485244.1:p.Pro878=
NM_001037343.1:c.2634_2636delinsCCT	NP_001032420.1:p.Pro878=
NM_003159.2:c.2634_2636delinsCCT	NP_003150.1:p.Pro878=
XM_011545569.1:c.2706_2708delinsCCT	XP_011543871.1:p.Pro902=
XM_011545570.1:c.2625_2627delinsCCT	XP_011543872.1:p.Pro875=
XR_950484.1:n.3009_3011delinsCCT
NM_001323289.1:c.2634_2636delinsCCT	NP_001310218.1:p.Pro878=
NM_001323289.2:c.2634_2636delinsCCT MANE Select	NP_001310218.1:p.Pro878=
NM_001037343.2:c.2634_2636delinsCCT	NP_001032420.1:p.Pro878=
NM_003159.3:c.2634_2636delinsCCT	NP_003150.1:p.Pro878=