Canonical Allele Identifier: CA2738438584

Gene: CDKL5

Linked Data

• dbSNP Id: rs2147156274

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598614_18598615del , CM000685.2:g.18598614_18598615del	GRCh38
NC_000023.10:g.18616734_18616735del , CM000685.1:g.18616734_18616735del	GRCh37
NC_000023.9:g.18526655_18526656del	NCBI36
NG_008475.1:g.178010_178011del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.977+1_977+2del MANE Select	ENSP00000485244.1:n.977+1_977+2del
ENST00000635828.1:c.977+1_977+2del	ENSP00000490170.1:n.977+1_977+2del
ENST00000637881.1:c.977+1_977+2del	ENSP00000489879.1:n.977+1_977+2del
ENST00000674046.1:c.977+1_977+2del	ENSP00000501174.1:n.977+1_977+2del
ENST00000379989.6:c.977+1_977+2del	ENSP00000369325.3:n.977+1_977+2del
ENST00000379996.7:c.977+1_977+2del	ENSP00000369332.3:n.977+1_977+2del
ENST00000463994.4:c.977+1_977+2del	ENSP00000485184.1:n.977+1_977+2del
ENST00000623535.1:c.977+1_977+2del	ENSP00000485244.1:n.977+1_977+2del
NM_001037343.1:c.977+1_977+2del	NP_001032420.1:n.977+1_977+2del
NM_003159.2:c.977+1_977+2del	NP_003150.1:n.977+1_977+2del
XM_011545569.1:c.926+52_926+53del	XP_011543871.1:n.926+52_926+53del
XM_011545570.1:c.845+1_845+2del	XP_011543872.1:n.845+1_845+2del
XR_950484.1:n.1229+1_1229+2del
NM_001323289.1:c.977+1_977+2del	NP_001310218.1:n.977+1_977+2del
NM_001323289.2:c.977+1_977+2del MANE Select	NP_001310218.1:n.977+1_977+2del
NM_001037343.2:c.977+1_977+2del	NP_001032420.1:n.977+1_977+2del
NM_003159.3:c.977+1_977+2del	NP_003150.1:n.977+1_977+2del