Canonical Allele Identifier: CA2695231347

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613152_18613153dup , CM000685.2:g.18613152_18613153dup	GRCh38
NC_000023.10:g.18631272_18631273dup , CM000685.1:g.18631272_18631273dup	GRCh37
NC_000023.9:g.18541193_18541194dup	NCBI36
NG_008475.1:g.192548_192549dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2153_2154dup
ENST00000635828.1:c.2153_2154dup
ENST00000674046.1:c.2153_2154dup
ENST00000379989.6:c.2153_2154dup
ENST00000379996.7:c.2153_2154dup
ENST00000463994.4:c.2153_2154dup
ENST00000623535.1:c.2153_2154dup
NM_001037343.1:c.2153_2154dup
NM_003159.2:c.2153_2154dup
XM_011545569.1:c.2102_2103dup
XM_011545570.1:c.2021_2022dup
XR_950484.1:n.2405_2406dup
NM_001323289.1:c.2153_2154dup
NM_001323289.2:c.2153_2154dup
NM_001037343.2:c.2153_2154dup
NM_003159.3:c.2153_2154dup