Canonical Allele Identifier: CA2417982254

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628700_18628702delinsCAG , CM000685.2:g.18628700_18628702delinsCAG	GRCh38
NC_000023.10:g.18646820_18646822delinsCAG , CM000685.1:g.18646820_18646822delinsCAG	GRCh37
NC_000023.9:g.18556741_18556743delinsCAG	NCBI36
NG_008475.1:g.208096_208098delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2826_2828delinsCAG MANE Select	ENSP00000485244.1:p.Asn942=
ENST00000674046.1:c.2949_2951delinsCAG	ENSP00000501174.1:p.Asn983=
ENST00000379989.6:c.2713+113_2713+115delinsCAG	ENSP00000369325.3:n.2713+113_2713+115delinsCAG
ENST00000379996.7:c.2713+113_2713+115delinsCAG	ENSP00000369332.3:n.2713+113_2713+115delinsCAG
ENST00000623535.1:c.2826_2828delinsCAG	ENSP00000485244.1:p.Asn942=
NM_001037343.1:c.2713+113_2713+115delinsCAG	NP_001032420.1:n.2713+113_2713+115delinsCAG
NM_003159.2:c.2713+113_2713+115delinsCAG	NP_003150.1:n.2713+113_2713+115delinsCAG
XM_011545569.1:c.2785+113_2785+115delinsCAG	XP_011543871.1:n.2785+113_2785+115delinsCAG
XM_011545570.1:c.2704+113_2704+115delinsCAG	XP_011543872.1:n.2704+113_2704+115delinsCAG
XR_950484.1:n.3088+113_3088+115delinsCAG
NM_001323289.1:c.2826_2828delinsCAG	NP_001310218.1:p.Asn942=
NM_001323289.2:c.2826_2828delinsCAG MANE Select	NP_001310218.1:p.Asn942=
NM_001037343.2:c.2713+113_2713+115delinsCAG	NP_001032420.1:n.2713+113_2713+115delinsCAG
NM_003159.3:c.2713+113_2713+115delinsCAG	NP_003150.1:n.2713+113_2713+115delinsCAG