Canonical Allele Identifier: CA2573158472

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1451469
• ClinVar RCV Id: RCV002007237
• dbSNP Id: rs2147160162

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18603935dup , CM000685.2:g.18603935dup	GRCh38
NC_000023.10:g.18622055dup , CM000685.1:g.18622055dup	GRCh37
NC_000023.9:g.18531976dup	NCBI36
NG_008475.1:g.183331dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.1011dup MANE Select	ENSP00000485244.1:p.His338SerfsTer5
ENST00000635828.1:c.1011dup	ENSP00000490170.1:p.His338SerfsTer5
ENST00000637881.1:c.1011dup	ENSP00000489879.1:p.His338SerfsTer5
ENST00000674046.1:c.1011dup	ENSP00000501174.1:p.His338SerfsTer5
ENST00000379989.6:c.1011dup	ENSP00000369325.3:p.His338SerfsTer5
ENST00000379996.7:c.1011dup	ENSP00000369332.3:p.His338SerfsTer5
ENST00000463994.4:c.1011dup	ENSP00000485184.1:p.His338SerfsTer5
ENST00000623535.1:c.1011dup	ENSP00000485244.1:p.His338SerfsTer5
NM_001037343.1:c.1011dup	NP_001032420.1:p.His338SerfsTer5
NM_003159.2:c.1011dup	NP_003150.1:p.His338SerfsTer5
XM_011545569.1:c.960dup	XP_011543871.1:p.His321SerfsTer5
XM_011545570.1:c.879dup	XP_011543872.1:p.His294SerfsTer5
XR_950484.1:n.1263dup
NM_001323289.1:c.1011dup	NP_001310218.1:p.His338SerfsTer5
NM_001323289.2:c.1011dup MANE Select	NP_001310218.1:p.His338SerfsTer5
NM_001037343.2:c.1011dup	NP_001032420.1:p.His338SerfsTer5
NM_003159.3:c.1011dup	NP_003150.1:p.His338SerfsTer5