Canonical Allele Identifier: CA2740097958

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18584263_18584283del , CM000685.2:g.18584263_18584283del	GRCh38
NC_000023.10:g.18602383_18602403del , CM000685.1:g.18602383_18602403del	GRCh37
NC_000023.9:g.18512304_18512324del	NCBI36
NG_008475.1:g.163659_163679del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.464_484del
ENST00000635828.1:c.464_484del
ENST00000637881.1:c.464_484del
ENST00000674046.1:c.464_484del
ENST00000379989.6:c.464_484del
ENST00000379996.7:c.464_484del
ENST00000463994.4:c.464_484del
ENST00000623535.1:c.464_484del
NM_001037343.1:c.464_484del
NM_003159.2:c.464_484del
XM_011545569.1:c.464_484del
XM_011545570.1:c.332_352del
XR_950484.1:n.716_736del
NM_001323289.1:c.464_484del
NM_001323289.2:c.464_484del
NM_001037343.2:c.464_484del
NM_003159.3:c.464_484del