Canonical Allele Identifier: CA2819902189

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604515_18604516insACA , CM000685.2:g.18604515_18604516insACA	GRCh38
NC_000023.10:g.18622635_18622636insACA , CM000685.1:g.18622635_18622636insACA	GRCh37
NC_000023.9:g.18532556_18532557insACA	NCBI36
NG_008475.1:g.183911_183912insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1591_1592insACA MANE Select	ENSP00000485244.1:p.Pro530_Thr531insAsn
ENST00000635828.1:c.1591_1592insACA	ENSP00000490170.1:p.Pro530_Thr531insAsn
ENST00000674046.1:c.1591_1592insACA	ENSP00000501174.1:p.Pro530_Thr531insAsn
ENST00000379989.6:c.1591_1592insACA	ENSP00000369325.3:p.Pro530_Thr531insAsn
ENST00000379996.7:c.1591_1592insACA	ENSP00000369332.3:p.Pro530_Thr531insAsn
ENST00000463994.4:c.1591_1592insACA	ENSP00000485184.1:p.Pro530_Thr531insAsn
ENST00000623535.1:c.1591_1592insACA	ENSP00000485244.1:p.Pro530_Thr531insAsn
NM_001037343.1:c.1591_1592insACA	NP_001032420.1:p.Pro530_Thr531insAsn
NM_003159.2:c.1591_1592insACA	NP_003150.1:p.Pro530_Thr531insAsn
XM_011545569.1:c.1540_1541insACA	XP_011543871.1:p.Pro513_Thr514insAsn
XM_011545570.1:c.1459_1460insACA	XP_011543872.1:p.Pro486_Thr487insAsn
XR_950484.1:n.1843_1844insACA
NM_001323289.1:c.1591_1592insACA	NP_001310218.1:p.Pro530_Thr531insAsn
NM_001323289.2:c.1591_1592insACA MANE Select	NP_001310218.1:p.Pro530_Thr531insAsn
NM_001037343.2:c.1591_1592insACA	NP_001032420.1:p.Pro530_Thr531insAsn
NM_003159.3:c.1591_1592insACA	NP_003150.1:p.Pro530_Thr531insAsn