Canonical Allele Identifier: CA2819912964

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628478_18628479insCACACCCAACAC , CM000685.2:g.18628478_18628479insCACACCCAACAC	GRCh38
NC_000023.10:g.18646598_18646599insCACACCCAACAC , CM000685.1:g.18646598_18646599insCACACCCAACAC	GRCh37
NC_000023.9:g.18556519_18556520insCACACCCAACAC	NCBI36
NG_008475.1:g.207874_207875insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2604_2605insCACACCCAACAC MANE Select	ENSP00000485244.1:p.Lys868_Asn869insHisThrGlnHis
ENST00000674046.1:c.2727_2728insCACACCCAACAC	ENSP00000501174.1:p.Lys909_Asn910insHisThrGlnHis
ENST00000379989.6:c.2604_2605insCACACCCAACAC	ENSP00000369325.3:p.Lys868_Asn869insHisThrGlnHis
ENST00000379996.7:c.2604_2605insCACACCCAACAC	ENSP00000369332.3:p.Lys868_Asn869insHisThrGlnHis
ENST00000623535.1:c.2604_2605insCACACCCAACAC	ENSP00000485244.1:p.Lys868_Asn869insHisThrGlnHis
NM_001037343.1:c.2604_2605insCACACCCAACAC	NP_001032420.1:p.Lys868_Asn869insHisThrGlnHis
NM_003159.2:c.2604_2605insCACACCCAACAC	NP_003150.1:p.Lys868_Asn869insHisThrGlnHis
XM_011545569.1:c.2676_2677insCACACCCAACAC	XP_011543871.1:p.Lys892_Asn893insHisThrGlnHis
XM_011545570.1:c.2595_2596insCACACCCAACAC	XP_011543872.1:p.Lys865_Asn866insHisThrGlnHis
XR_950484.1:n.2979_2980insCACACCCAACAC
NM_001323289.1:c.2604_2605insCACACCCAACAC	NP_001310218.1:p.Lys868_Asn869insHisThrGlnHis
NM_001323289.2:c.2604_2605insCACACCCAACAC MANE Select	NP_001310218.1:p.Lys868_Asn869insHisThrGlnHis
NM_001037343.2:c.2604_2605insCACACCCAACAC	NP_001032420.1:p.Lys868_Asn869insHisThrGlnHis
NM_003159.3:c.2604_2605insCACACCCAACAC	NP_003150.1:p.Lys868_Asn869insHisThrGlnHis