Canonical Allele Identifier: CA2838032892

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604339_18604340del , CM000685.2:g.18604339_18604340del	GRCh38
NC_000023.10:g.18622459_18622460del , CM000685.1:g.18622459_18622460del	GRCh37
NC_000023.9:g.18532380_18532381del	NCBI36
NG_008475.1:g.183735_183736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1415_1416del MANE Select	ENSP00000485244.1:p.Thr472AsnfsTer6
ENST00000635828.1:c.1415_1416del	ENSP00000490170.1:p.Thr472AsnfsTer6
ENST00000674046.1:c.1415_1416del	ENSP00000501174.1:p.Thr472AsnfsTer6
ENST00000379989.6:c.1415_1416del	ENSP00000369325.3:p.Thr472AsnfsTer6
ENST00000379996.7:c.1415_1416del	ENSP00000369332.3:p.Thr472AsnfsTer6
ENST00000463994.4:c.1415_1416del	ENSP00000485184.1:p.Thr472AsnfsTer6
ENST00000623535.1:c.1415_1416del	ENSP00000485244.1:p.Thr472AsnfsTer6
NM_001037343.1:c.1415_1416del	NP_001032420.1:p.Thr472AsnfsTer6
NM_003159.2:c.1415_1416del	NP_003150.1:p.Thr472AsnfsTer6
XM_011545569.1:c.1364_1365del	XP_011543871.1:p.Thr455AsnfsTer6
XM_011545570.1:c.1283_1284del	XP_011543872.1:p.Thr428AsnfsTer6
XR_950484.1:n.1667_1668del
NM_001323289.1:c.1415_1416del	NP_001310218.1:p.Thr472AsnfsTer6
NM_001323289.2:c.1415_1416del MANE Select	NP_001310218.1:p.Thr472AsnfsTer6
NM_001037343.2:c.1415_1416del	NP_001032420.1:p.Thr472AsnfsTer6
NM_003159.3:c.1415_1416del	NP_003150.1:p.Thr472AsnfsTer6