Canonical Allele Identifier: CA2417979394

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619825_18619829delinsATGAT , CM000685.2:g.18619825_18619829delinsATGAT	GRCh38
NC_000023.10:g.18637945_18637949delinsATGAT , CM000685.1:g.18637945_18637949delinsATGAT	GRCh37
NC_000023.9:g.18547866_18547870delinsATGAT	NCBI36
NG_008475.1:g.199221_199225delinsATGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2277-42_2277-38delinsATGAT MANE Select	ENSP00000485244.1:n.2277-42_2277-38delinsATGAT
ENST00000635828.1:c.2277-42_2277-38delinsATGAT	ENSP00000490170.1:n.2277-42_2277-38delinsATGAT
ENST00000674046.1:c.2277-42_2277-38delinsATGAT	ENSP00000501174.1:n.2277-42_2277-38delinsATGAT
ENST00000379989.6:c.2277-42_2277-38delinsATGAT	ENSP00000369325.3:n.2277-42_2277-38delinsATGAT
ENST00000379996.7:c.2277-42_2277-38delinsATGAT	ENSP00000369332.3:n.2277-42_2277-38delinsATGAT
ENST00000463994.4:c.2277-42_2277-38delinsATGAT	ENSP00000485184.1:n.2277-42_2277-38delinsATGAT
ENST00000623535.1:c.2277-42_2277-38delinsATGAT	ENSP00000485244.1:n.2277-42_2277-38delinsATGAT
NM_001037343.1:c.2277-42_2277-38delinsATGAT	NP_001032420.1:n.2277-42_2277-38delinsATGAT
NM_003159.2:c.2277-42_2277-38delinsATGAT	NP_003150.1:n.2277-42_2277-38delinsATGAT
XM_011545569.1:c.2226-42_2226-38delinsATGAT	XP_011543871.1:n.2226-42_2226-38delinsATGAT
XM_011545570.1:c.2145-42_2145-38delinsATGAT	XP_011543872.1:n.2145-42_2145-38delinsATGAT
XR_950484.1:n.2529-42_2529-38delinsATGAT
NM_001323289.1:c.2277-42_2277-38delinsATGAT	NP_001310218.1:n.2277-42_2277-38delinsATGAT
NM_001323289.2:c.2277-42_2277-38delinsATGAT MANE Select	NP_001310218.1:n.2277-42_2277-38delinsATGAT
NM_001037343.2:c.2277-42_2277-38delinsATGAT	NP_001032420.1:n.2277-42_2277-38delinsATGAT
NM_003159.3:c.2277-42_2277-38delinsATGAT	NP_003150.1:n.2277-42_2277-38delinsATGAT