Canonical Allele Identifier: CA2579562955

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18608788del , CM000685.2:g.18608788del	GRCh38
NC_000023.10:g.18626908del , CM000685.1:g.18626908del	GRCh37
NC_000023.9:g.18536829del	NCBI36
NG_008475.1:g.188184del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.1945-23del MANE Select	ENSP00000485244.1:n.1945-23del
ENST00000635828.1:c.1945-23del	ENSP00000490170.1:n.1945-23del
ENST00000674046.1:c.1945-23del	ENSP00000501174.1:n.1945-23del
ENST00000379989.6:c.1945-23del	ENSP00000369325.3:n.1945-23del
ENST00000379996.7:c.1945-23del	ENSP00000369332.3:n.1945-23del
ENST00000463994.4:c.1945-23del	ENSP00000485184.1:n.1945-23del
ENST00000623535.1:c.1945-23del	ENSP00000485244.1:n.1945-23del
NM_001037343.1:c.1945-23del	NP_001032420.1:n.1945-23del
NM_003159.2:c.1945-23del	NP_003150.1:n.1945-23del
XM_011545569.1:c.1894-23del	XP_011543871.1:n.1894-23del
XM_011545570.1:c.1813-23del	XP_011543872.1:n.1813-23del
XR_950484.1:n.2197-23del
NM_001323289.1:c.1945-23del	NP_001310218.1:n.1945-23del
NM_001323289.2:c.1945-23del MANE Select	NP_001310218.1:n.1945-23del
NM_001037343.2:c.1945-23del	NP_001032420.1:n.1945-23del
NM_003159.3:c.1945-23del	NP_003150.1:n.1945-23del