Canonical Allele Identifier: CA2843744756

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18603975_18603976del , CM000685.2:g.18603975_18603976del	GRCh38
NC_000023.10:g.18622095_18622096del , CM000685.1:g.18622095_18622096del	GRCh37
NC_000023.9:g.18532016_18532017del	NCBI36
NG_008475.1:g.183371_183372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1051_1052del MANE Select	ENSP00000485244.1:p.Val351ArgfsTer6
ENST00000635828.1:c.1051_1052del	ENSP00000490170.1:p.Val351ArgfsTer6
ENST00000637881.1:c.1051_1052del	ENSP00000489879.1:p.Val351ArgfsTer6
ENST00000674046.1:c.1051_1052del	ENSP00000501174.1:p.Val351ArgfsTer6
ENST00000379989.6:c.1051_1052del	ENSP00000369325.3:p.Val351ArgfsTer6
ENST00000379996.7:c.1051_1052del	ENSP00000369332.3:p.Val351ArgfsTer6
ENST00000463994.4:c.1051_1052del	ENSP00000485184.1:p.Val351ArgfsTer6
ENST00000623535.1:c.1051_1052del	ENSP00000485244.1:p.Val351ArgfsTer6
NM_001037343.1:c.1051_1052del	NP_001032420.1:p.Val351ArgfsTer6
NM_003159.2:c.1051_1052del	NP_003150.1:p.Val351ArgfsTer6
XM_011545569.1:c.1000_1001del	XP_011543871.1:p.Val334ArgfsTer6
XM_011545570.1:c.919_920del	XP_011543872.1:p.Val307ArgfsTer6
XR_950484.1:n.1303_1304del
NM_001323289.1:c.1051_1052del	NP_001310218.1:p.Val351ArgfsTer6
NM_001323289.2:c.1051_1052del MANE Select	NP_001310218.1:p.Val351ArgfsTer6
NM_001037343.2:c.1051_1052del	NP_001032420.1:p.Val351ArgfsTer6
NM_003159.3:c.1051_1052del	NP_003150.1:p.Val351ArgfsTer6