Canonical Allele Identifier: CA2695231339

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18608870_18608882del , CM000685.2:g.18608870_18608882del	GRCh38
NC_000023.10:g.18626990_18627002del , CM000685.1:g.18626990_18627002del	GRCh37
NC_000023.9:g.18536911_18536923del	NCBI36
NG_008475.1:g.188266_188278del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.2004_2016del MANE Select	ENSP00000485244.1:p.Arg669LeufsTer?
ENST00000635828.1:c.2004_2016del	ENSP00000490170.1:p.Arg669LeufsTer?
ENST00000674046.1:c.2004_2016del	ENSP00000501174.1:p.Arg669LeufsTer?
ENST00000379989.6:c.2004_2016del	ENSP00000369325.3:p.Arg669LeufsTer?
ENST00000379996.7:c.2004_2016del	ENSP00000369332.3:p.Arg669LeufsTer?
ENST00000463994.4:c.2004_2016del	ENSP00000485184.1:p.Arg669LeufsTer?
ENST00000623535.1:c.2004_2016del	ENSP00000485244.1:p.Arg669LeufsTer?
NM_001037343.1:c.2004_2016del	NP_001032420.1:p.Arg669LeufsTer?
NM_003159.2:c.2004_2016del	NP_003150.1:p.Arg669LeufsTer?
XM_011545569.1:c.1953_1965del	XP_011543871.1:p.Arg652LeufsTer?
XM_011545570.1:c.1872_1884del	XP_011543872.1:p.Arg625LeufsTer?
XR_950484.1:n.2256_2268del
NM_001323289.1:c.2004_2016del	NP_001310218.1:p.Arg669LeufsTer?
NM_001323289.2:c.2004_2016del MANE Select	NP_001310218.1:p.Arg669LeufsTer?
NM_001037343.2:c.2004_2016del	NP_001032420.1:p.Arg669LeufsTer?
NM_003159.3:c.2004_2016del	NP_003150.1:p.Arg669LeufsTer?