Canonical Allele Identifier: CA2695231331

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604786_18604801del , CM000685.2:g.18604786_18604801del	GRCh38
NC_000023.10:g.18622906_18622921del , CM000685.1:g.18622906_18622921del	GRCh37
NC_000023.9:g.18532827_18532842del	NCBI36
NG_008475.1:g.184182_184197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1862_1877del MANE Select	ENSP00000485244.1:p.Arg621MetfsTer4
ENST00000635828.1:c.1862_1877del	ENSP00000490170.1:p.Arg621MetfsTer4
ENST00000674046.1:c.1862_1877del	ENSP00000501174.1:p.Arg621MetfsTer4
ENST00000379989.6:c.1862_1877del	ENSP00000369325.3:p.Arg621MetfsTer4
ENST00000379996.7:c.1862_1877del	ENSP00000369332.3:p.Arg621MetfsTer4
ENST00000463994.4:c.1862_1877del	ENSP00000485184.1:p.Arg621MetfsTer4
ENST00000623535.1:c.1862_1877del	ENSP00000485244.1:p.Arg621MetfsTer4
NM_001037343.1:c.1862_1877del	NP_001032420.1:p.Arg621MetfsTer4
NM_003159.2:c.1862_1877del	NP_003150.1:p.Arg621MetfsTer4
XM_011545569.1:c.1811_1826del	XP_011543871.1:p.Arg604MetfsTer4
XM_011545570.1:c.1730_1745del	XP_011543872.1:p.Arg577MetfsTer4
XR_950484.1:n.2114_2129del
NM_001323289.1:c.1862_1877del	NP_001310218.1:p.Arg621MetfsTer4
NM_001323289.2:c.1862_1877del MANE Select	NP_001310218.1:p.Arg621MetfsTer4
NM_001037343.2:c.1862_1877del	NP_001032420.1:p.Arg621MetfsTer4
NM_003159.3:c.1862_1877del	NP_003150.1:p.Arg621MetfsTer4