Canonical Allele Identifier: CA2695231356

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628575dup , CM000685.2:g.18628575dup	GRCh38
NC_000023.10:g.18646695dup , CM000685.1:g.18646695dup	GRCh37
NC_000023.9:g.18556616dup	NCBI36
NG_008475.1:g.207971dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2701dup MANE Select	ENSP00000485244.1:p.Leu901ProfsTer28
ENST00000674046.1:c.2824dup	ENSP00000501174.1:p.Leu942ProfsTer28
ENST00000379989.6:c.2701dup	ENSP00000369325.3:p.Leu901ProfsTer9
ENST00000379996.7:c.2701dup	ENSP00000369332.3:p.Leu901ProfsTer9
ENST00000623535.1:c.2701dup	ENSP00000485244.1:p.Leu901ProfsTer28
NM_001037343.1:c.2701dup	NP_001032420.1:p.Leu901ProfsTer9
NM_003159.2:c.2701dup	NP_003150.1:p.Leu901ProfsTer9
XM_011545569.1:c.2773dup	XP_011543871.1:p.Leu925ProfsTer9
XM_011545570.1:c.2692dup	XP_011543872.1:p.Leu898ProfsTer9
XR_950484.1:n.3076dup
NM_001323289.1:c.2701dup	NP_001310218.1:p.Leu901ProfsTer28
NM_001323289.2:c.2701dup MANE Select	NP_001310218.1:p.Leu901ProfsTer28
NM_001037343.2:c.2701dup	NP_001032420.1:p.Leu901ProfsTer9
NM_003159.3:c.2701dup	NP_003150.1:p.Leu901ProfsTer9