Canonical Allele Identifier: CA2695231336

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604849del , CM000685.2:g.18604849del	GRCh38
NC_000023.10:g.18622969del , CM000685.1:g.18622969del	GRCh37
NC_000023.9:g.18532890del	NCBI36
NG_008475.1:g.184245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1925del MANE Select	ENSP00000485244.1:p.Leu642ArgfsTer16
ENST00000635828.1:c.1925del	ENSP00000490170.1:p.Leu642ArgfsTer16
ENST00000674046.1:c.1925del	ENSP00000501174.1:p.Leu642ArgfsTer16
ENST00000379989.6:c.1925del	ENSP00000369325.3:p.Leu642ArgfsTer16
ENST00000379996.7:c.1925del	ENSP00000369332.3:p.Leu642ArgfsTer16
ENST00000463994.4:c.1925del	ENSP00000485184.1:p.Leu642ArgfsTer16
ENST00000623535.1:c.1925del	ENSP00000485244.1:p.Leu642ArgfsTer16
NM_001037343.1:c.1925del	NP_001032420.1:p.Leu642ArgfsTer16
NM_003159.2:c.1925del	NP_003150.1:p.Leu642ArgfsTer16
XM_011545569.1:c.1874del	XP_011543871.1:p.Leu625ArgfsTer16
XM_011545570.1:c.1793del	XP_011543872.1:p.Leu598ArgfsTer16
XR_950484.1:n.2177del
NM_001323289.1:c.1925del	NP_001310218.1:p.Leu642ArgfsTer16
NM_001323289.2:c.1925del MANE Select	NP_001310218.1:p.Leu642ArgfsTer16
NM_001037343.2:c.1925del	NP_001032420.1:p.Leu642ArgfsTer16
NM_003159.3:c.1925del	NP_003150.1:p.Leu642ArgfsTer16